Canonical Allele Identifier: CA375313851

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396809C>G (hg19) ; chr9:g.131521422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521422C>G , CM000671.2:g.131521422C>G	GRCh38
NC_000009.11:g.134396809C>G , CM000671.1:g.134396809C>G	GRCh37
NC_000009.10:g.133386630C>G	NCBI36
NG_008896.1:g.23521C>G
NG_008896.2:g.23521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1613C>G	ENSP00000343034.7:p.Ser538Cys
ENST00000404875.7:n.2315C>G
ENST00000423007.6:c.1832C>G	ENSP00000404119.2:p.Ser611Cys
ENST00000677295.2:c.*2119C>G	ENSP00000504346.2:n.*2119C>G
ENST00000678264.2:c.*1958C>G	ENSP00000503157.2:n.*1958C>G
ENST00000682070.1:n.2240C>G
ENST00000682813.1:n.2179C>G
ENST00000683392.1:n.4522C>G
ENST00000683712.1:n.2180C>G
ENST00000683900.1:n.3675C>G
ENST00000684062.1:n.2441C>G
ENST00000684579.1:n.3621C>G
ENST00000684679.1:n.1002C>G
ENST00000341012.12:c.1613C>G	ENSP00000343034.7:p.Ser538Cys
ENST00000372220.5:c.644C>G	ENSP00000361294.5:p.Ser215Cys
ENST00000372228.9:c.1841C>G	ENSP00000361302.3:p.Ser614Cys
ENST00000402686.8:c.1775C>G MANE Select	ENSP00000385797.4:p.Ser592Cys
ENST00000676640.1:c.1775C>G	ENSP00000503281.1:p.Ser592Cys
ENST00000676803.1:c.836C>G	ENSP00000503093.1:p.Ser279Cys
ENST00000676835.1:c.*990C>G	ENSP00000502911.1:n.*990C>G
ENST00000677029.1:c.1319C>G	ENSP00000502936.1:p.Ser440Cys
ENST00000677099.1:c.*1485C>G	ENSP00000504553.1:n.*1485C>G
ENST00000677216.1:c.1424C>G	ENSP00000503772.1:p.Ser475Cys
ENST00000677221.1:n.800C>G
ENST00000677295.1:c.*1152C>G	ENSP00000504346.1:n.*1152C>G
ENST00000677444.1:c.1720C>G
ENST00000677586.1:n.1142C>G
ENST00000677626.1:c.1424C>G	ENSP00000503552.1:p.Ser475Cys
ENST00000677853.1:c.*783C>G	ENSP00000503488.1:n.*783C>G
ENST00000678202.1:n.934C>G
ENST00000678264.1:c.*1152C>G	ENSP00000503157.1:n.*1152C>G
ENST00000678303.1:c.1685C>G	ENSP00000503696.1:p.Ser562Cys
ENST00000678366.1:c.*2024C>G	ENSP00000504353.1:n.*2024C>G
ENST00000678546.1:c.*1720C>G	ENSP00000503062.1:n.*1720C>G
ENST00000678548.1:c.*1847C>G	ENSP00000503934.1:n.*1847C>G
ENST00000678626.1:n.1611C>G
ENST00000678739.1:c.*2096C>G	ENSP00000503806.1:n.*2096C>G
ENST00000678833.1:c.*1527C>G	ENSP00000503893.1:n.*1527C>G
ENST00000679023.1:c.1613C>G	ENSP00000503718.1:p.Ser538Cys
ENST00000679076.1:c.1394C>G
ENST00000679111.1:c.*531C>G	ENSP00000504257.1:n.*531C>G
ENST00000679189.1:c.1424C>G	ENSP00000503356.1:p.Ser475Cys
ENST00000341012.11:c.1613C>G	ENSP00000343034.7:p.Ser538Cys
ENST00000372220.4:c.638C>G	ENSP00000361294.4:p.Ser213Cys
ENST00000372228.7:c.1841C>G	ENSP00000361302.3:p.Ser614Cys
ENST00000402686.7:c.1775C>G	ENSP00000385797.3:p.Ser592Cys
ENST00000404875.6:c.1424C>G	ENSP00000384531.2:p.Ser475Cys
ENST00000423007.5:c.1775C>G	ENSP00000404119.1:p.Ser592Cys
ENST00000485278.5:n.2325C>G
ENST00000494883.1:n.318C>G
NM_001077365.1:c.1775C>G	NP_001070833.1:p.Ser592Cys
NM_001077366.1:c.1613C>G	NP_001070834.1:p.Ser538Cys
NM_001136113.1:c.1775C>G	NP_001129585.1:p.Ser592Cys
NM_001136114.1:c.1424C>G	NP_001129586.1:p.Ser475Cys
NM_007171.3:c.1841C>G	NP_009102.3:p.Ser614Cys
XM_005272156.1:c.1841C>G	XP_005272213.1:p.Ser614Cys
XM_005272158.1:c.1679C>G	XP_005272215.1:p.Ser560Cys
XM_005272159.1:c.1490C>G	XP_005272216.1:p.Ser497Cys
XM_005272162.1:c.644C>G	XP_005272219.1:p.Ser215Cys
XM_006716932.1:c.1490C>G	XP_006716995.1:p.Ser497Cys
XM_011518140.1:c.1694C>G	XP_011516442.1:p.Ser565Cys
XM_011518141.1:c.1628C>G	XP_011516443.1:p.Ser543Cys
XM_011518142.1:c.1532C>G	XP_011516444.1:p.Ser511Cys
XM_011518143.1:c.1526C>G	XP_011516445.1:p.Ser509Cys
XM_011518145.1:c.1385C>G	XP_011516447.1:p.Ser462Cys
XM_011518147.1:c.713C>G	XP_011516449.1:p.Ser238Cys
XR_929703.1:n.2017C>G
NM_001353193.1:c.1841C>G	NP_001340122.1:p.Ser614Cys
NM_001353194.1:c.1613C>G	NP_001340123.1:p.Ser538Cys
NM_001353195.1:c.1424C>G	NP_001340124.1:p.Ser475Cys
NM_001353196.1:c.1685C>G	NP_001340125.1:p.Ser562Cys
NM_001353197.1:c.1679C>G	NP_001340126.1:p.Ser560Cys
NM_001353198.1:c.1679C>G	NP_001340127.1:p.Ser560Cys
NM_001353199.1:c.1490C>G	NP_001340128.1:p.Ser497Cys
NM_001353200.1:c.1319C>G	NP_001340129.1:p.Ser440Cys
NR_148391.1:n.1825C>G
NR_148392.1:n.2043C>G
NR_148393.1:n.1964C>G
NR_148394.1:n.1718C>G
NR_148395.1:n.2116C>G
NR_148396.1:n.1750C>G
NR_148397.1:n.1875C>G
NR_148398.1:n.1830C>G
NR_148399.1:n.2356C>G
NR_148400.1:n.1955C>G
XM_005272162.3:c.644C>G	XP_005272219.1:p.Ser215Cys
XM_006716932.2:c.1490C>G	XP_006716995.1:p.Ser497Cys
XM_011518140.2:c.1694C>G	XP_011516442.1:p.Ser565Cys
XM_011518141.2:c.1628C>G	XP_011516443.1:p.Ser543Cys
XM_011518142.2:c.1532C>G	XP_011516444.1:p.Ser511Cys
XM_011518143.2:c.1526C>G	XP_011516445.1:p.Ser509Cys
XM_011518145.2:c.1385C>G	XP_011516447.1:p.Ser462Cys
XM_017014205.2:c.644C>G	XP_016869694.1:p.Ser215Cys
XM_024447380.1:c.644C>G	XP_024303148.1:p.Ser215Cys
XM_024447381.1:c.950C>G	XP_024303149.1:p.Ser317Cys
XM_024447382.1:c.644C>G	XP_024303150.1:p.Ser215Cys
XR_001746160.2:n.1945C>G
XR_001746162.2:n.2150C>G
XR_001746164.1:n.1867C>G
XR_001746166.2:n.2162C>G
NM_001077365.2:c.1775C>G MANE Select	NP_001070833.1:p.Ser592Cys
NM_001077366.2:c.1613C>G	NP_001070834.1:p.Ser538Cys
NM_001136113.2:c.1775C>G	NP_001129585.1:p.Ser592Cys
NM_001136114.2:c.1424C>G	NP_001129586.1:p.Ser475Cys
NM_001353193.2:c.1841C>G	NP_001340122.2:p.Ser614Cys
NM_001353194.2:c.1613C>G	NP_001340123.1:p.Ser538Cys
NM_001353195.2:c.1424C>G	NP_001340124.1:p.Ser475Cys
NM_001353196.2:c.1685C>G	NP_001340125.1:p.Ser562Cys
NM_001353197.2:c.1679C>G	NP_001340126.2:p.Ser560Cys
NM_001353198.2:c.1679C>G	NP_001340127.2:p.Ser560Cys
NM_001353199.2:c.1490C>G	NP_001340128.2:p.Ser497Cys
NM_001353200.2:c.1319C>G	NP_001340129.1:p.Ser440Cys
NM_001374689.1:c.1763C>G	NP_001361618.1:p.Ser588Cys
NM_001374690.1:c.1556C>G	NP_001361619.1:p.Ser519Cys
NM_001374691.1:c.1424C>G	NP_001361620.1:p.Ser475Cys
NM_001374692.1:c.1424C>G	NP_001361621.1:p.Ser475Cys
NM_001374693.1:c.1424C>G	NP_001361622.1:p.Ser475Cys
NM_001374695.1:c.1385C>G	NP_001361624.1:p.Ser462Cys
NM_007171.4:c.1841C>G	NP_009102.4:p.Ser614Cys
NR_148391.2:n.1809C>G
NR_148392.2:n.2027C>G
NR_148393.2:n.1948C>G
NR_148394.2:n.1702C>G
NR_148395.2:n.2100C>G
NR_148396.2:n.1734C>G
NR_148397.2:n.1859C>G
NR_148398.2:n.1814C>G
NR_148399.2:n.2340C>G
NR_148400.2:n.1939C>G