Canonical Allele Identifier: CA375314451

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397526T>G (hg19) ; chr9:g.131522139T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522139T>G , CM000671.2:g.131522139T>G	GRCh38
NC_000009.11:g.134397526T>G , CM000671.1:g.134397526T>G	GRCh37
NC_000009.10:g.133387347T>G	NCBI36
NG_008896.1:g.24238T>G
NG_008896.2:g.24238T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1756T>G	ENSP00000343034.7:p.Phe586Val
ENST00000404875.7:n.2458T>G
ENST00000423007.6:c.1975T>G	ENSP00000404119.2:p.Phe659Val
ENST00000677295.2:c.*2262T>G	ENSP00000504346.2:n.*2262T>G
ENST00000678264.2:c.*2101T>G	ENSP00000503157.2:n.*2101T>G
ENST00000682070.1:n.2291-63T>G
ENST00000682813.1:n.2322T>G
ENST00000683392.1:n.4573-63T>G
ENST00000683712.1:n.2323T>G
ENST00000683900.1:n.3818T>G
ENST00000684062.1:n.2584T>G
ENST00000684579.1:n.3764T>G
ENST00000684679.1:n.1145T>G
ENST00000341012.12:c.1756T>G	ENSP00000343034.7:p.Phe586Val
ENST00000372220.5:c.787T>G	ENSP00000361294.5:p.Phe263Val
ENST00000372228.9:c.1984T>G	ENSP00000361302.3:p.Phe662Val
ENST00000402686.8:c.1918T>G MANE Select	ENSP00000385797.4:p.Phe640Val
ENST00000676640.1:c.1918T>G	ENSP00000503281.1:p.Phe640Val
ENST00000676803.1:c.979T>G	ENSP00000503093.1:p.Phe327Val
ENST00000676835.1:c.*1133T>G	ENSP00000502911.1:n.*1133T>G
ENST00000677029.1:c.1462T>G	ENSP00000502936.1:p.Phe488Val
ENST00000677099.1:c.*1628T>G	ENSP00000504553.1:n.*1628T>G
ENST00000677216.1:c.1567T>G	ENSP00000503772.1:p.Phe523Val
ENST00000677221.1:n.943T>G
ENST00000677295.1:c.*1203-63T>G	ENSP00000504346.1:n.*1203-63T>G
ENST00000677444.1:c.1863T>G
ENST00000677586.1:n.1285T>G
ENST00000677626.1:c.1567T>G	ENSP00000503552.1:p.Phe523Val
ENST00000677853.1:c.*926T>G	ENSP00000503488.1:n.*926T>G
ENST00000678202.1:n.1077T>G
ENST00000678264.1:c.*1295T>G	ENSP00000503157.1:n.*1295T>G
ENST00000678303.1:c.1828T>G	ENSP00000503696.1:p.Phe610Val
ENST00000678366.1:c.*2167T>G	ENSP00000504353.1:n.*2167T>G
ENST00000678546.1:c.*1863T>G	ENSP00000503062.1:n.*1863T>G
ENST00000678548.1:c.*2057T>G	ENSP00000503934.1:n.*2057T>G
ENST00000678626.1:n.1754T>G
ENST00000678739.1:c.*2147-63T>G	ENSP00000503806.1:n.*2147-63T>G
ENST00000678833.1:c.*1670T>G	ENSP00000503893.1:n.*1670T>G
ENST00000679023.1:c.1756T>G	ENSP00000503718.1:p.Phe586Val
ENST00000679076.1:c.1537T>G
ENST00000679111.1:c.*674T>G	ENSP00000504257.1:n.*674T>G
ENST00000679189.1:c.1567T>G	ENSP00000503356.1:p.Phe523Val
ENST00000341012.11:c.1756T>G	ENSP00000343034.7:p.Phe586Val
ENST00000372220.4:c.781T>G	ENSP00000361294.4:p.Phe261Val
ENST00000372228.7:c.1984T>G	ENSP00000361302.3:p.Phe662Val
ENST00000402686.7:c.1918T>G	ENSP00000385797.3:p.Phe640Val
ENST00000404875.6:c.1567T>G	ENSP00000384531.2:p.Phe523Val
ENST00000423007.5:c.1918T>G	ENSP00000404119.1:p.Phe640Val
ENST00000485278.5:n.2468T>G
ENST00000494883.1:n.461T>G
NM_001077365.1:c.1918T>G	NP_001070833.1:p.Phe640Val
NM_001077366.1:c.1756T>G	NP_001070834.1:p.Phe586Val
NM_001136113.1:c.1918T>G	NP_001129585.1:p.Phe640Val
NM_001136114.1:c.1567T>G	NP_001129586.1:p.Phe523Val
NM_007171.3:c.1984T>G	NP_009102.3:p.Phe662Val
XM_005272156.1:c.1984T>G	XP_005272213.1:p.Phe662Val
XM_005272158.1:c.1822T>G	XP_005272215.1:p.Phe608Val
XM_005272159.1:c.1633T>G	XP_005272216.1:p.Phe545Val
XM_005272162.1:c.787T>G	XP_005272219.1:p.Phe263Val
XM_006716932.1:c.1633T>G	XP_006716995.1:p.Phe545Val
XM_011518140.1:c.1837T>G	XP_011516442.1:p.Phe613Val
XM_011518141.1:c.1771T>G	XP_011516443.1:p.Phe591Val
XM_011518142.1:c.1675T>G	XP_011516444.1:p.Phe559Val
XM_011518143.1:c.1669T>G	XP_011516445.1:p.Phe557Val
XM_011518145.1:c.1528T>G	XP_011516447.1:p.Phe510Val
XM_011518147.1:c.856T>G	XP_011516449.1:p.Phe286Val
XR_929703.1:n.2160T>G
NM_001353193.1:c.1984T>G	NP_001340122.1:p.Phe662Val
NM_001353194.1:c.1756T>G	NP_001340123.1:p.Phe586Val
NM_001353195.1:c.1567T>G	NP_001340124.1:p.Phe523Val
NM_001353196.1:c.1828T>G	NP_001340125.1:p.Phe610Val
NM_001353197.1:c.1822T>G	NP_001340126.1:p.Phe608Val
NM_001353198.1:c.1822T>G	NP_001340127.1:p.Phe608Val
NM_001353199.1:c.1633T>G	NP_001340128.1:p.Phe545Val
NM_001353200.1:c.1462T>G	NP_001340129.1:p.Phe488Val
NR_148391.1:n.1968T>G
NR_148392.1:n.2186T>G
NR_148393.1:n.2107T>G
NR_148394.1:n.1861T>G
NR_148395.1:n.2259T>G
NR_148396.1:n.1893T>G
NR_148397.1:n.2018T>G
NR_148398.1:n.1973T>G
NR_148399.1:n.2499T>G
NR_148400.1:n.2098T>G
XM_005272162.3:c.787T>G	XP_005272219.1:p.Phe263Val
XM_006716932.2:c.1633T>G	XP_006716995.1:p.Phe545Val
XM_011518140.2:c.1837T>G	XP_011516442.1:p.Phe613Val
XM_011518141.2:c.1771T>G	XP_011516443.1:p.Phe591Val
XM_011518142.2:c.1675T>G	XP_011516444.1:p.Phe559Val
XM_011518143.2:c.1669T>G	XP_011516445.1:p.Phe557Val
XM_011518145.2:c.1528T>G	XP_011516447.1:p.Phe510Val
XM_017014205.2:c.787T>G	XP_016869694.1:p.Phe263Val
XM_024447380.1:c.787T>G	XP_024303148.1:p.Phe263Val
XM_024447381.1:c.1093T>G	XP_024303149.1:p.Phe365Val
XM_024447382.1:c.787T>G	XP_024303150.1:p.Phe263Val
XR_001746160.2:n.2088T>G
XR_001746162.2:n.2293T>G
XR_001746164.1:n.2010T>G
XR_001746166.2:n.2305T>G
NM_001077365.2:c.1918T>G MANE Select	NP_001070833.1:p.Phe640Val
NM_001077366.2:c.1756T>G	NP_001070834.1:p.Phe586Val
NM_001136113.2:c.1918T>G	NP_001129585.1:p.Phe640Val
NM_001136114.2:c.1567T>G	NP_001129586.1:p.Phe523Val
NM_001353193.2:c.1984T>G	NP_001340122.2:p.Phe662Val
NM_001353194.2:c.1756T>G	NP_001340123.1:p.Phe586Val
NM_001353195.2:c.1567T>G	NP_001340124.1:p.Phe523Val
NM_001353196.2:c.1828T>G	NP_001340125.1:p.Phe610Val
NM_001353197.2:c.1822T>G	NP_001340126.2:p.Phe608Val
NM_001353198.2:c.1822T>G	NP_001340127.2:p.Phe608Val
NM_001353199.2:c.1633T>G	NP_001340128.2:p.Phe545Val
NM_001353200.2:c.1462T>G	NP_001340129.1:p.Phe488Val
NM_001374689.1:c.1906T>G	NP_001361618.1:p.Phe636Val
NM_001374690.1:c.1699T>G	NP_001361619.1:p.Phe567Val
NM_001374691.1:c.1567T>G	NP_001361620.1:p.Phe523Val
NM_001374692.1:c.1567T>G	NP_001361621.1:p.Phe523Val
NM_001374693.1:c.1567T>G	NP_001361622.1:p.Phe523Val
NM_001374695.1:c.1528T>G	NP_001361624.1:p.Phe510Val
NM_007171.4:c.1984T>G	NP_009102.4:p.Phe662Val
NR_148391.2:n.1952T>G
NR_148392.2:n.2170T>G
NR_148393.2:n.2091T>G
NR_148394.2:n.1845T>G
NR_148395.2:n.2243T>G
NR_148396.2:n.1877T>G
NR_148397.2:n.2002T>G
NR_148398.2:n.1957T>G
NR_148399.2:n.2483T>G
NR_148400.2:n.2082T>G