Canonical Allele Identifier: CA375314270

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397481T>C (hg19) ; chr9:g.131522094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522094T>C , CM000671.2:g.131522094T>C	GRCh38
NC_000009.11:g.134397481T>C , CM000671.1:g.134397481T>C	GRCh37
NC_000009.10:g.133387302T>C	NCBI36
NG_008896.1:g.24193T>C
NG_008896.2:g.24193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1711T>C	ENSP00000343034.7:p.Trp571Arg
ENST00000404875.7:n.2413T>C
ENST00000423007.6:c.1930T>C	ENSP00000404119.2:p.Trp644Arg
ENST00000677295.2:c.*2217T>C	ENSP00000504346.2:n.*2217T>C
ENST00000678264.2:c.*2056T>C	ENSP00000503157.2:n.*2056T>C
ENST00000682070.1:n.2291-108T>C
ENST00000682813.1:n.2277T>C
ENST00000683392.1:n.4573-108T>C
ENST00000683712.1:n.2278T>C
ENST00000683900.1:n.3773T>C
ENST00000684062.1:n.2539T>C
ENST00000684579.1:n.3719T>C
ENST00000684679.1:n.1100T>C
ENST00000341012.12:c.1711T>C	ENSP00000343034.7:p.Trp571Arg
ENST00000372220.5:c.742T>C	ENSP00000361294.5:p.Trp248Arg
ENST00000372228.9:c.1939T>C	ENSP00000361302.3:p.Trp647Arg
ENST00000402686.8:c.1873T>C MANE Select	ENSP00000385797.4:p.Trp625Arg
ENST00000676640.1:c.1873T>C	ENSP00000503281.1:p.Trp625Arg
ENST00000676803.1:c.934T>C	ENSP00000503093.1:p.Trp312Arg
ENST00000676835.1:c.*1088T>C	ENSP00000502911.1:n.*1088T>C
ENST00000677029.1:c.1417T>C	ENSP00000502936.1:p.Trp473Arg
ENST00000677099.1:c.*1583T>C	ENSP00000504553.1:n.*1583T>C
ENST00000677216.1:c.1522T>C	ENSP00000503772.1:p.Trp508Arg
ENST00000677221.1:n.898T>C
ENST00000677295.1:c.*1203-108T>C	ENSP00000504346.1:n.*1203-108T>C
ENST00000677444.1:c.1818T>C
ENST00000677586.1:n.1240T>C
ENST00000677626.1:c.1522T>C	ENSP00000503552.1:p.Trp508Arg
ENST00000677853.1:c.*881T>C	ENSP00000503488.1:n.*881T>C
ENST00000678202.1:n.1032T>C
ENST00000678264.1:c.*1250T>C	ENSP00000503157.1:n.*1250T>C
ENST00000678303.1:c.1783T>C	ENSP00000503696.1:p.Trp595Arg
ENST00000678366.1:c.*2122T>C	ENSP00000504353.1:n.*2122T>C
ENST00000678546.1:c.*1818T>C	ENSP00000503062.1:n.*1818T>C
ENST00000678548.1:c.*2012T>C	ENSP00000503934.1:n.*2012T>C
ENST00000678626.1:n.1709T>C
ENST00000678739.1:c.*2147-108T>C	ENSP00000503806.1:n.*2147-108T>C
ENST00000678833.1:c.*1625T>C	ENSP00000503893.1:n.*1625T>C
ENST00000679023.1:c.1711T>C	ENSP00000503718.1:p.Trp571Arg
ENST00000679076.1:c.1492T>C
ENST00000679111.1:c.*629T>C	ENSP00000504257.1:n.*629T>C
ENST00000679189.1:c.1522T>C	ENSP00000503356.1:p.Trp508Arg
ENST00000341012.11:c.1711T>C	ENSP00000343034.7:p.Trp571Arg
ENST00000372220.4:c.736T>C	ENSP00000361294.4:p.Trp246Arg
ENST00000372228.7:c.1939T>C	ENSP00000361302.3:p.Trp647Arg
ENST00000402686.7:c.1873T>C	ENSP00000385797.3:p.Trp625Arg
ENST00000404875.6:c.1522T>C	ENSP00000384531.2:p.Trp508Arg
ENST00000423007.5:c.1873T>C	ENSP00000404119.1:p.Trp625Arg
ENST00000485278.5:n.2423T>C
ENST00000494883.1:n.416T>C
NM_001077365.1:c.1873T>C	NP_001070833.1:p.Trp625Arg
NM_001077366.1:c.1711T>C	NP_001070834.1:p.Trp571Arg
NM_001136113.1:c.1873T>C	NP_001129585.1:p.Trp625Arg
NM_001136114.1:c.1522T>C	NP_001129586.1:p.Trp508Arg
NM_007171.3:c.1939T>C	NP_009102.3:p.Trp647Arg
XM_005272156.1:c.1939T>C	XP_005272213.1:p.Trp647Arg
XM_005272158.1:c.1777T>C	XP_005272215.1:p.Trp593Arg
XM_005272159.1:c.1588T>C	XP_005272216.1:p.Trp530Arg
XM_005272162.1:c.742T>C	XP_005272219.1:p.Trp248Arg
XM_006716932.1:c.1588T>C	XP_006716995.1:p.Trp530Arg
XM_011518140.1:c.1792T>C	XP_011516442.1:p.Trp598Arg
XM_011518141.1:c.1726T>C	XP_011516443.1:p.Trp576Arg
XM_011518142.1:c.1630T>C	XP_011516444.1:p.Trp544Arg
XM_011518143.1:c.1624T>C	XP_011516445.1:p.Trp542Arg
XM_011518145.1:c.1483T>C	XP_011516447.1:p.Trp495Arg
XM_011518147.1:c.811T>C	XP_011516449.1:p.Trp271Arg
XR_929703.1:n.2115T>C
NM_001353193.1:c.1939T>C	NP_001340122.1:p.Trp647Arg
NM_001353194.1:c.1711T>C	NP_001340123.1:p.Trp571Arg
NM_001353195.1:c.1522T>C	NP_001340124.1:p.Trp508Arg
NM_001353196.1:c.1783T>C	NP_001340125.1:p.Trp595Arg
NM_001353197.1:c.1777T>C	NP_001340126.1:p.Trp593Arg
NM_001353198.1:c.1777T>C	NP_001340127.1:p.Trp593Arg
NM_001353199.1:c.1588T>C	NP_001340128.1:p.Trp530Arg
NM_001353200.1:c.1417T>C	NP_001340129.1:p.Trp473Arg
NR_148391.1:n.1923T>C
NR_148392.1:n.2141T>C
NR_148393.1:n.2062T>C
NR_148394.1:n.1816T>C
NR_148395.1:n.2214T>C
NR_148396.1:n.1848T>C
NR_148397.1:n.1973T>C
NR_148398.1:n.1928T>C
NR_148399.1:n.2454T>C
NR_148400.1:n.2053T>C
XM_005272162.3:c.742T>C	XP_005272219.1:p.Trp248Arg
XM_006716932.2:c.1588T>C	XP_006716995.1:p.Trp530Arg
XM_011518140.2:c.1792T>C	XP_011516442.1:p.Trp598Arg
XM_011518141.2:c.1726T>C	XP_011516443.1:p.Trp576Arg
XM_011518142.2:c.1630T>C	XP_011516444.1:p.Trp544Arg
XM_011518143.2:c.1624T>C	XP_011516445.1:p.Trp542Arg
XM_011518145.2:c.1483T>C	XP_011516447.1:p.Trp495Arg
XM_017014205.2:c.742T>C	XP_016869694.1:p.Trp248Arg
XM_024447380.1:c.742T>C	XP_024303148.1:p.Trp248Arg
XM_024447381.1:c.1048T>C	XP_024303149.1:p.Trp350Arg
XM_024447382.1:c.742T>C	XP_024303150.1:p.Trp248Arg
XR_001746160.2:n.2043T>C
XR_001746162.2:n.2248T>C
XR_001746164.1:n.1965T>C
XR_001746166.2:n.2260T>C
NM_001077365.2:c.1873T>C MANE Select	NP_001070833.1:p.Trp625Arg
NM_001077366.2:c.1711T>C	NP_001070834.1:p.Trp571Arg
NM_001136113.2:c.1873T>C	NP_001129585.1:p.Trp625Arg
NM_001136114.2:c.1522T>C	NP_001129586.1:p.Trp508Arg
NM_001353193.2:c.1939T>C	NP_001340122.2:p.Trp647Arg
NM_001353194.2:c.1711T>C	NP_001340123.1:p.Trp571Arg
NM_001353195.2:c.1522T>C	NP_001340124.1:p.Trp508Arg
NM_001353196.2:c.1783T>C	NP_001340125.1:p.Trp595Arg
NM_001353197.2:c.1777T>C	NP_001340126.2:p.Trp593Arg
NM_001353198.2:c.1777T>C	NP_001340127.2:p.Trp593Arg
NM_001353199.2:c.1588T>C	NP_001340128.2:p.Trp530Arg
NM_001353200.2:c.1417T>C	NP_001340129.1:p.Trp473Arg
NM_001374689.1:c.1861T>C	NP_001361618.1:p.Trp621Arg
NM_001374690.1:c.1654T>C	NP_001361619.1:p.Trp552Arg
NM_001374691.1:c.1522T>C	NP_001361620.1:p.Trp508Arg
NM_001374692.1:c.1522T>C	NP_001361621.1:p.Trp508Arg
NM_001374693.1:c.1522T>C	NP_001361622.1:p.Trp508Arg
NM_001374695.1:c.1483T>C	NP_001361624.1:p.Trp495Arg
NM_007171.4:c.1939T>C	NP_009102.4:p.Trp647Arg
NR_148391.2:n.1907T>C
NR_148392.2:n.2125T>C
NR_148393.2:n.2046T>C
NR_148394.2:n.1800T>C
NR_148395.2:n.2198T>C
NR_148396.2:n.1832T>C
NR_148397.2:n.1957T>C
NR_148398.2:n.1912T>C
NR_148399.2:n.2438T>C
NR_148400.2:n.2037T>C