Canonical Allele Identifier: CA1881758224

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522147C= , CM000671.2:g.131522147C=	GRCh38
NC_000009.11:g.134397534C= , CM000671.1:g.134397534C=	GRCh37
NC_000009.10:g.133387355C=	NCBI36
NG_008896.1:g.24246C=
NG_008896.2:g.24246C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1764C=	ENSP00000343034.7:p.Tyr588=
ENST00000404875.7:n.2466C=
ENST00000423007.6:c.1983C=	ENSP00000404119.2:p.Tyr661=
ENST00000677295.2:c.*2270C=	ENSP00000504346.2:n.*2270C=
ENST00000678264.2:c.*2109C=	ENSP00000503157.2:n.*2109C=
ENST00000682070.1:n.2291-55C=
ENST00000682813.1:n.2330C=
ENST00000683392.1:n.4573-55C=
ENST00000683712.1:n.2331C=
ENST00000683900.1:n.3826C=
ENST00000684062.1:n.2592C=
ENST00000684579.1:n.3772C=
ENST00000684679.1:n.1153C=
ENST00000341012.12:c.1764C=	ENSP00000343034.7:p.Tyr588=
ENST00000372220.5:c.795C=	ENSP00000361294.5:p.Tyr265=
ENST00000372228.9:c.1992C=	ENSP00000361302.3:p.Tyr664=
ENST00000402686.8:c.1926C= MANE Select	ENSP00000385797.4:p.Tyr642=
ENST00000676640.1:c.1926C=	ENSP00000503281.1:p.Tyr642=
ENST00000676803.1:c.987C=	ENSP00000503093.1:p.Tyr329=
ENST00000676835.1:c.*1141C=	ENSP00000502911.1:n.*1141C=
ENST00000677029.1:c.1470C=	ENSP00000502936.1:p.Tyr490=
ENST00000677099.1:c.*1636C=	ENSP00000504553.1:n.*1636C=
ENST00000677216.1:c.1575C=	ENSP00000503772.1:p.Tyr525=
ENST00000677221.1:n.951C=
ENST00000677295.1:c.*1203-55C=	ENSP00000504346.1:n.*1203-55C=
ENST00000677444.1:c.1871C=
ENST00000677586.1:n.1293C=
ENST00000677626.1:c.1575C=	ENSP00000503552.1:p.Tyr525=
ENST00000677853.1:c.*934C=	ENSP00000503488.1:n.*934C=
ENST00000678202.1:n.1085C=
ENST00000678264.1:c.*1303C=	ENSP00000503157.1:n.*1303C=
ENST00000678303.1:c.1836C=	ENSP00000503696.1:p.Tyr612=
ENST00000678366.1:c.*2175C=	ENSP00000504353.1:n.*2175C=
ENST00000678546.1:c.*1871C=	ENSP00000503062.1:n.*1871C=
ENST00000678548.1:c.*2065C=	ENSP00000503934.1:n.*2065C=
ENST00000678626.1:n.1762C=
ENST00000678739.1:c.*2147-55C=	ENSP00000503806.1:n.*2147-55C=
ENST00000678833.1:c.*1678C=	ENSP00000503893.1:n.*1678C=
ENST00000679023.1:c.1764C=	ENSP00000503718.1:p.Tyr588=
ENST00000679076.1:c.1545C=
ENST00000679111.1:c.*682C=	ENSP00000504257.1:n.*682C=
ENST00000679189.1:c.1575C=	ENSP00000503356.1:p.Tyr525=
ENST00000341012.11:c.1764C=	ENSP00000343034.7:p.Tyr588=
ENST00000372220.4:c.789C=	ENSP00000361294.4:p.Tyr263=
ENST00000372228.7:c.1992C=	ENSP00000361302.3:p.Tyr664=
ENST00000402686.7:c.1926C=	ENSP00000385797.3:p.Tyr642=
ENST00000404875.6:c.1575C=	ENSP00000384531.2:p.Tyr525=
ENST00000423007.5:c.1926C=	ENSP00000404119.1:p.Tyr642=
ENST00000485278.5:n.2476C=
ENST00000494883.1:n.469C=
NM_001077365.1:c.1926C=	NP_001070833.1:p.Tyr642=
NM_001077366.1:c.1764C=	NP_001070834.1:p.Tyr588=
NM_001136113.1:c.1926C=	NP_001129585.1:p.Tyr642=
NM_001136114.1:c.1575C=	NP_001129586.1:p.Tyr525=
NM_007171.3:c.1992C=	NP_009102.3:p.Tyr664=
XM_005272156.1:c.1992C=	XP_005272213.1:p.Tyr664=
XM_005272158.1:c.1830C=	XP_005272215.1:p.Tyr610=
XM_005272159.1:c.1641C=	XP_005272216.1:p.Tyr547=
XM_005272162.1:c.795C=	XP_005272219.1:p.Tyr265=
XM_006716932.1:c.1641C=	XP_006716995.1:p.Tyr547=
XM_011518140.1:c.1845C=	XP_011516442.1:p.Tyr615=
XM_011518141.1:c.1779C=	XP_011516443.1:p.Tyr593=
XM_011518142.1:c.1683C=	XP_011516444.1:p.Tyr561=
XM_011518143.1:c.1677C=	XP_011516445.1:p.Tyr559=
XM_011518145.1:c.1536C=	XP_011516447.1:p.Tyr512=
XM_011518147.1:c.864C=	XP_011516449.1:p.Tyr288=
XR_929703.1:n.2168C=
NM_001353193.1:c.1992C=	NP_001340122.1:p.Tyr664=
NM_001353194.1:c.1764C=	NP_001340123.1:p.Tyr588=
NM_001353195.1:c.1575C=	NP_001340124.1:p.Tyr525=
NM_001353196.1:c.1836C=	NP_001340125.1:p.Tyr612=
NM_001353197.1:c.1830C=	NP_001340126.1:p.Tyr610=
NM_001353198.1:c.1830C=	NP_001340127.1:p.Tyr610=
NM_001353199.1:c.1641C=	NP_001340128.1:p.Tyr547=
NM_001353200.1:c.1470C=	NP_001340129.1:p.Tyr490=
NR_148391.1:n.1976C=
NR_148392.1:n.2194C=
NR_148393.1:n.2115C=
NR_148394.1:n.1869C=
NR_148395.1:n.2267C=
NR_148396.1:n.1901C=
NR_148397.1:n.2026C=
NR_148398.1:n.1981C=
NR_148399.1:n.2507C=
NR_148400.1:n.2106C=
XM_005272162.3:c.795C=	XP_005272219.1:p.Tyr265=
XM_006716932.2:c.1641C=	XP_006716995.1:p.Tyr547=
XM_011518140.2:c.1845C=	XP_011516442.1:p.Tyr615=
XM_011518141.2:c.1779C=	XP_011516443.1:p.Tyr593=
XM_011518142.2:c.1683C=	XP_011516444.1:p.Tyr561=
XM_011518143.2:c.1677C=	XP_011516445.1:p.Tyr559=
XM_011518145.2:c.1536C=	XP_011516447.1:p.Tyr512=
XM_017014205.2:c.795C=	XP_016869694.1:p.Tyr265=
XM_024447380.1:c.795C=	XP_024303148.1:p.Tyr265=
XM_024447381.1:c.1101C=	XP_024303149.1:p.Tyr367=
XM_024447382.1:c.795C=	XP_024303150.1:p.Tyr265=
XR_001746160.2:n.2096C=
XR_001746162.2:n.2301C=
XR_001746164.1:n.2018C=
XR_001746166.2:n.2313C=
NM_001077365.2:c.1926C= MANE Select	NP_001070833.1:p.Tyr642=
NM_001077366.2:c.1764C=	NP_001070834.1:p.Tyr588=
NM_001136113.2:c.1926C=	NP_001129585.1:p.Tyr642=
NM_001136114.2:c.1575C=	NP_001129586.1:p.Tyr525=
NM_001353193.2:c.1992C=	NP_001340122.2:p.Tyr664=
NM_001353194.2:c.1764C=	NP_001340123.1:p.Tyr588=
NM_001353195.2:c.1575C=	NP_001340124.1:p.Tyr525=
NM_001353196.2:c.1836C=	NP_001340125.1:p.Tyr612=
NM_001353197.2:c.1830C=	NP_001340126.2:p.Tyr610=
NM_001353198.2:c.1830C=	NP_001340127.2:p.Tyr610=
NM_001353199.2:c.1641C=	NP_001340128.2:p.Tyr547=
NM_001353200.2:c.1470C=	NP_001340129.1:p.Tyr490=
NM_001374689.1:c.1914C=	NP_001361618.1:p.Tyr638=
NM_001374690.1:c.1707C=	NP_001361619.1:p.Tyr569=
NM_001374691.1:c.1575C=	NP_001361620.1:p.Tyr525=
NM_001374692.1:c.1575C=	NP_001361621.1:p.Tyr525=
NM_001374693.1:c.1575C=	NP_001361622.1:p.Tyr525=
NM_001374695.1:c.1536C=	NP_001361624.1:p.Tyr512=
NM_007171.4:c.1992C=	NP_009102.4:p.Tyr664=
NR_148391.2:n.1960C=
NR_148392.2:n.2178C=
NR_148393.2:n.2099C=
NR_148394.2:n.1853C=
NR_148395.2:n.2251C=
NR_148396.2:n.1885C=
NR_148397.2:n.2010C=
NR_148398.2:n.1965C=
NR_148399.2:n.2491C=
NR_148400.2:n.2090C=