Canonical Allele Identifier: CA375313546

Gene: POMT1

Linked Data

• gnomAD v4: 9-131521345-G-C
• MyVariant Identifiers: chr9:g.134396732G>C (hg19) ; chr9:g.131521345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521345G>C , CM000671.2:g.131521345G>C	GRCh38
NC_000009.11:g.134396732G>C , CM000671.1:g.134396732G>C	GRCh37
NC_000009.10:g.133386553G>C	NCBI36
NG_008896.1:g.23444G>C
NG_008896.2:g.23444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1537-1G>C	ENSP00000343034.7:n.1537-1G>C
ENST00000404875.7:n.2239-1G>C
ENST00000423007.6:c.1756-1G>C	ENSP00000404119.2:n.1756-1G>C
ENST00000677295.2:c.*2043-1G>C	ENSP00000504346.2:n.*2043-1G>C
ENST00000678264.2:c.*1882-1G>C	ENSP00000503157.2:n.*1882-1G>C
ENST00000682070.1:n.2164-1G>C
ENST00000682813.1:n.2103-1G>C
ENST00000683392.1:n.4446-1G>C
ENST00000683712.1:n.2104-1G>C
ENST00000683900.1:n.3599-1G>C
ENST00000684062.1:n.2365-1G>C
ENST00000684579.1:n.3545-1G>C
ENST00000684679.1:n.926-1G>C
ENST00000341012.12:c.1537-1G>C	ENSP00000343034.7:n.1537-1G>C
ENST00000372220.5:c.568-1G>C	ENSP00000361294.5:n.568-1G>C
ENST00000372228.9:c.1765-1G>C	ENSP00000361302.3:n.1765-1G>C
ENST00000402686.8:c.1699-1G>C MANE Select	ENSP00000385797.4:n.1699-1G>C
ENST00000676640.1:c.1699-1G>C	ENSP00000503281.1:n.1699-1G>C
ENST00000676803.1:c.760-1G>C	ENSP00000503093.1:n.760-1G>C
ENST00000676835.1:c.*914-1G>C	ENSP00000502911.1:n.*914-1G>C
ENST00000677029.1:c.1243-1G>C	ENSP00000502936.1:n.1243-1G>C
ENST00000677099.1:c.*1409-1G>C	ENSP00000504553.1:n.*1409-1G>C
ENST00000677216.1:c.1348-1G>C	ENSP00000503772.1:n.1348-1G>C
ENST00000677221.1:n.724-1G>C
ENST00000677295.1:c.*1076-1G>C	ENSP00000504346.1:n.*1076-1G>C
ENST00000677444.1:c.1644-1G>C
ENST00000677586.1:n.1066-1G>C
ENST00000677626.1:c.1348-1G>C	ENSP00000503552.1:n.1348-1G>C
ENST00000677853.1:c.*707-1G>C	ENSP00000503488.1:n.*707-1G>C
ENST00000678202.1:n.858-1G>C
ENST00000678264.1:c.*1076-1G>C	ENSP00000503157.1:n.*1076-1G>C
ENST00000678303.1:c.1609-1G>C	ENSP00000503696.1:n.1609-1G>C
ENST00000678366.1:c.*1948-1G>C	ENSP00000504353.1:n.*1948-1G>C
ENST00000678546.1:c.*1644-1G>C	ENSP00000503062.1:n.*1644-1G>C
ENST00000678548.1:c.*1771-1G>C	ENSP00000503934.1:n.*1771-1G>C
ENST00000678626.1:n.1535-1G>C
ENST00000678739.1:c.*2020-1G>C	ENSP00000503806.1:n.*2020-1G>C
ENST00000678833.1:c.*1451-1G>C	ENSP00000503893.1:n.*1451-1G>C
ENST00000679023.1:c.1537-1G>C	ENSP00000503718.1:n.1537-1G>C
ENST00000679076.1:c.1318-1G>C
ENST00000679111.1:c.*455-1G>C	ENSP00000504257.1:n.*455-1G>C
ENST00000679189.1:c.1348-1G>C	ENSP00000503356.1:n.1348-1G>C
ENST00000341012.11:c.1537-1G>C	ENSP00000343034.7:n.1537-1G>C
ENST00000372220.4:c.562-1G>C	ENSP00000361294.4:n.562-1G>C
ENST00000372228.7:c.1765-1G>C	ENSP00000361302.3:n.1765-1G>C
ENST00000402686.7:c.1699-1G>C	ENSP00000385797.3:n.1699-1G>C
ENST00000404875.6:c.1348-1G>C	ENSP00000384531.2:n.1348-1G>C
ENST00000423007.5:c.1699-1G>C	ENSP00000404119.1:n.1699-1G>C
ENST00000467848.1:n.403-1G>C
ENST00000485278.5:n.2249-1G>C
ENST00000494883.1:n.241G>C
NM_001077365.1:c.1699-1G>C	NP_001070833.1:n.1699-1G>C
NM_001077366.1:c.1537-1G>C	NP_001070834.1:n.1537-1G>C
NM_001136113.1:c.1699-1G>C	NP_001129585.1:n.1699-1G>C
NM_001136114.1:c.1348-1G>C	NP_001129586.1:n.1348-1G>C
NM_007171.3:c.1765-1G>C	NP_009102.3:n.1765-1G>C
XM_005272156.1:c.1765-1G>C	XP_005272213.1:n.1765-1G>C
XM_005272158.1:c.1603-1G>C	XP_005272215.1:n.1603-1G>C
XM_005272159.1:c.1414-1G>C	XP_005272216.1:n.1414-1G>C
XM_005272162.1:c.568-1G>C	XP_005272219.1:n.568-1G>C
XM_006716932.1:c.1414-1G>C	XP_006716995.1:n.1414-1G>C
XM_011518140.1:c.1618-1G>C	XP_011516442.1:n.1618-1G>C
XM_011518141.1:c.1552-1G>C	XP_011516443.1:n.1552-1G>C
XM_011518142.1:c.1456-1G>C	XP_011516444.1:n.1456-1G>C
XM_011518143.1:c.1450-1G>C	XP_011516445.1:n.1450-1G>C
XM_011518145.1:c.1309-1G>C	XP_011516447.1:n.1309-1G>C
XM_011518147.1:c.637-1G>C	XP_011516449.1:n.637-1G>C
XR_929703.1:n.1941-1G>C
NM_001353193.1:c.1765-1G>C	NP_001340122.1:n.1765-1G>C
NM_001353194.1:c.1537-1G>C	NP_001340123.1:n.1537-1G>C
NM_001353195.1:c.1348-1G>C	NP_001340124.1:n.1348-1G>C
NM_001353196.1:c.1609-1G>C	NP_001340125.1:n.1609-1G>C
NM_001353197.1:c.1603-1G>C	NP_001340126.1:n.1603-1G>C
NM_001353198.1:c.1603-1G>C	NP_001340127.1:n.1603-1G>C
NM_001353199.1:c.1414-1G>C	NP_001340128.1:n.1414-1G>C
NM_001353200.1:c.1243-1G>C	NP_001340129.1:n.1243-1G>C
NR_148391.1:n.1749-1G>C
NR_148392.1:n.1967-1G>C
NR_148393.1:n.1888-1G>C
NR_148394.1:n.1642-1G>C
NR_148395.1:n.2040-1G>C
NR_148396.1:n.1674-1G>C
NR_148397.1:n.1799-1G>C
NR_148398.1:n.1754-1G>C
NR_148399.1:n.2280-1G>C
NR_148400.1:n.1879-1G>C
XM_005272162.3:c.568-1G>C	XP_005272219.1:n.568-1G>C
XM_006716932.2:c.1414-1G>C	XP_006716995.1:n.1414-1G>C
XM_011518140.2:c.1618-1G>C	XP_011516442.1:n.1618-1G>C
XM_011518141.2:c.1552-1G>C	XP_011516443.1:n.1552-1G>C
XM_011518142.2:c.1456-1G>C	XP_011516444.1:n.1456-1G>C
XM_011518143.2:c.1450-1G>C	XP_011516445.1:n.1450-1G>C
XM_011518145.2:c.1309-1G>C	XP_011516447.1:n.1309-1G>C
XM_017014205.2:c.568-1G>C	XP_016869694.1:n.568-1G>C
XM_024447380.1:c.568-1G>C	XP_024303148.1:n.568-1G>C
XM_024447381.1:c.874-1G>C	XP_024303149.1:n.874-1G>C
XM_024447382.1:c.568-1G>C	XP_024303150.1:n.568-1G>C
XR_001746160.2:n.1869-1G>C
XR_001746162.2:n.2074-1G>C
XR_001746164.1:n.1791-1G>C
XR_001746166.2:n.2086-1G>C
NM_001077365.2:c.1699-1G>C MANE Select	NP_001070833.1:n.1699-1G>C
NM_001077366.2:c.1537-1G>C	NP_001070834.1:n.1537-1G>C
NM_001136113.2:c.1699-1G>C	NP_001129585.1:n.1699-1G>C
NM_001136114.2:c.1348-1G>C	NP_001129586.1:n.1348-1G>C
NM_001353193.2:c.1765-1G>C	NP_001340122.2:n.1765-1G>C
NM_001353194.2:c.1537-1G>C	NP_001340123.1:n.1537-1G>C
NM_001353195.2:c.1348-1G>C	NP_001340124.1:n.1348-1G>C
NM_001353196.2:c.1609-1G>C	NP_001340125.1:n.1609-1G>C
NM_001353197.2:c.1603-1G>C	NP_001340126.2:n.1603-1G>C
NM_001353198.2:c.1603-1G>C	NP_001340127.2:n.1603-1G>C
NM_001353199.2:c.1414-1G>C	NP_001340128.2:n.1414-1G>C
NM_001353200.2:c.1243-1G>C	NP_001340129.1:n.1243-1G>C
NM_001374689.1:c.1687-1G>C	NP_001361618.1:n.1687-1G>C
NM_001374690.1:c.1480-1G>C	NP_001361619.1:n.1480-1G>C
NM_001374691.1:c.1348-1G>C	NP_001361620.1:n.1348-1G>C
NM_001374692.1:c.1348-1G>C	NP_001361621.1:n.1348-1G>C
NM_001374693.1:c.1348-1G>C	NP_001361622.1:n.1348-1G>C
NM_001374695.1:c.1309-1G>C	NP_001361624.1:n.1309-1G>C
NM_007171.4:c.1765-1G>C	NP_009102.4:n.1765-1G>C
NR_148391.2:n.1733-1G>C
NR_148392.2:n.1951-1G>C
NR_148393.2:n.1872-1G>C
NR_148394.2:n.1626-1G>C
NR_148395.2:n.2024-1G>C
NR_148396.2:n.1658-1G>C
NR_148397.2:n.1783-1G>C
NR_148398.2:n.1738-1G>C
NR_148399.2:n.2264-1G>C
NR_148400.2:n.1863-1G>C