Canonical Allele Identifier: CA375314371

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397506T>A (hg19) ; chr9:g.131522119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522119T>A , CM000671.2:g.131522119T>A	GRCh38
NC_000009.11:g.134397506T>A , CM000671.1:g.134397506T>A	GRCh37
NC_000009.10:g.133387327T>A	NCBI36
NG_008896.1:g.24218T>A
NG_008896.2:g.24218T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1736T>A	ENSP00000343034.7:p.Phe579Tyr
ENST00000404875.7:n.2438T>A
ENST00000423007.6:c.1955T>A	ENSP00000404119.2:p.Phe652Tyr
ENST00000677295.2:c.*2242T>A	ENSP00000504346.2:n.*2242T>A
ENST00000678264.2:c.*2081T>A	ENSP00000503157.2:n.*2081T>A
ENST00000682070.1:n.2291-83T>A
ENST00000682813.1:n.2302T>A
ENST00000683392.1:n.4573-83T>A
ENST00000683712.1:n.2303T>A
ENST00000683900.1:n.3798T>A
ENST00000684062.1:n.2564T>A
ENST00000684579.1:n.3744T>A
ENST00000684679.1:n.1125T>A
ENST00000341012.12:c.1736T>A	ENSP00000343034.7:p.Phe579Tyr
ENST00000372220.5:c.767T>A	ENSP00000361294.5:p.Phe256Tyr
ENST00000372228.9:c.1964T>A	ENSP00000361302.3:p.Phe655Tyr
ENST00000402686.8:c.1898T>A MANE Select	ENSP00000385797.4:p.Phe633Tyr
ENST00000676640.1:c.1898T>A	ENSP00000503281.1:p.Phe633Tyr
ENST00000676803.1:c.959T>A	ENSP00000503093.1:p.Phe320Tyr
ENST00000676835.1:c.*1113T>A	ENSP00000502911.1:n.*1113T>A
ENST00000677029.1:c.1442T>A	ENSP00000502936.1:p.Phe481Tyr
ENST00000677099.1:c.*1608T>A	ENSP00000504553.1:n.*1608T>A
ENST00000677216.1:c.1547T>A	ENSP00000503772.1:p.Phe516Tyr
ENST00000677221.1:n.923T>A
ENST00000677295.1:c.*1203-83T>A	ENSP00000504346.1:n.*1203-83T>A
ENST00000677444.1:c.1843T>A
ENST00000677586.1:n.1265T>A
ENST00000677626.1:c.1547T>A	ENSP00000503552.1:p.Phe516Tyr
ENST00000677853.1:c.*906T>A	ENSP00000503488.1:n.*906T>A
ENST00000678202.1:n.1057T>A
ENST00000678264.1:c.*1275T>A	ENSP00000503157.1:n.*1275T>A
ENST00000678303.1:c.1808T>A	ENSP00000503696.1:p.Phe603Tyr
ENST00000678366.1:c.*2147T>A	ENSP00000504353.1:n.*2147T>A
ENST00000678546.1:c.*1843T>A	ENSP00000503062.1:n.*1843T>A
ENST00000678548.1:c.*2037T>A	ENSP00000503934.1:n.*2037T>A
ENST00000678626.1:n.1734T>A
ENST00000678739.1:c.*2147-83T>A	ENSP00000503806.1:n.*2147-83T>A
ENST00000678833.1:c.*1650T>A	ENSP00000503893.1:n.*1650T>A
ENST00000679023.1:c.1736T>A	ENSP00000503718.1:p.Phe579Tyr
ENST00000679076.1:c.1517T>A
ENST00000679111.1:c.*654T>A	ENSP00000504257.1:n.*654T>A
ENST00000679189.1:c.1547T>A	ENSP00000503356.1:p.Phe516Tyr
ENST00000341012.11:c.1736T>A	ENSP00000343034.7:p.Phe579Tyr
ENST00000372220.4:c.761T>A	ENSP00000361294.4:p.Phe254Tyr
ENST00000372228.7:c.1964T>A	ENSP00000361302.3:p.Phe655Tyr
ENST00000402686.7:c.1898T>A	ENSP00000385797.3:p.Phe633Tyr
ENST00000404875.6:c.1547T>A	ENSP00000384531.2:p.Phe516Tyr
ENST00000423007.5:c.1898T>A	ENSP00000404119.1:p.Phe633Tyr
ENST00000485278.5:n.2448T>A
ENST00000494883.1:n.441T>A
NM_001077365.1:c.1898T>A	NP_001070833.1:p.Phe633Tyr
NM_001077366.1:c.1736T>A	NP_001070834.1:p.Phe579Tyr
NM_001136113.1:c.1898T>A	NP_001129585.1:p.Phe633Tyr
NM_001136114.1:c.1547T>A	NP_001129586.1:p.Phe516Tyr
NM_007171.3:c.1964T>A	NP_009102.3:p.Phe655Tyr
XM_005272156.1:c.1964T>A	XP_005272213.1:p.Phe655Tyr
XM_005272158.1:c.1802T>A	XP_005272215.1:p.Phe601Tyr
XM_005272159.1:c.1613T>A	XP_005272216.1:p.Phe538Tyr
XM_005272162.1:c.767T>A	XP_005272219.1:p.Phe256Tyr
XM_006716932.1:c.1613T>A	XP_006716995.1:p.Phe538Tyr
XM_011518140.1:c.1817T>A	XP_011516442.1:p.Phe606Tyr
XM_011518141.1:c.1751T>A	XP_011516443.1:p.Phe584Tyr
XM_011518142.1:c.1655T>A	XP_011516444.1:p.Phe552Tyr
XM_011518143.1:c.1649T>A	XP_011516445.1:p.Phe550Tyr
XM_011518145.1:c.1508T>A	XP_011516447.1:p.Phe503Tyr
XM_011518147.1:c.836T>A	XP_011516449.1:p.Phe279Tyr
XR_929703.1:n.2140T>A
NM_001353193.1:c.1964T>A	NP_001340122.1:p.Phe655Tyr
NM_001353194.1:c.1736T>A	NP_001340123.1:p.Phe579Tyr
NM_001353195.1:c.1547T>A	NP_001340124.1:p.Phe516Tyr
NM_001353196.1:c.1808T>A	NP_001340125.1:p.Phe603Tyr
NM_001353197.1:c.1802T>A	NP_001340126.1:p.Phe601Tyr
NM_001353198.1:c.1802T>A	NP_001340127.1:p.Phe601Tyr
NM_001353199.1:c.1613T>A	NP_001340128.1:p.Phe538Tyr
NM_001353200.1:c.1442T>A	NP_001340129.1:p.Phe481Tyr
NR_148391.1:n.1948T>A
NR_148392.1:n.2166T>A
NR_148393.1:n.2087T>A
NR_148394.1:n.1841T>A
NR_148395.1:n.2239T>A
NR_148396.1:n.1873T>A
NR_148397.1:n.1998T>A
NR_148398.1:n.1953T>A
NR_148399.1:n.2479T>A
NR_148400.1:n.2078T>A
XM_005272162.3:c.767T>A	XP_005272219.1:p.Phe256Tyr
XM_006716932.2:c.1613T>A	XP_006716995.1:p.Phe538Tyr
XM_011518140.2:c.1817T>A	XP_011516442.1:p.Phe606Tyr
XM_011518141.2:c.1751T>A	XP_011516443.1:p.Phe584Tyr
XM_011518142.2:c.1655T>A	XP_011516444.1:p.Phe552Tyr
XM_011518143.2:c.1649T>A	XP_011516445.1:p.Phe550Tyr
XM_011518145.2:c.1508T>A	XP_011516447.1:p.Phe503Tyr
XM_017014205.2:c.767T>A	XP_016869694.1:p.Phe256Tyr
XM_024447380.1:c.767T>A	XP_024303148.1:p.Phe256Tyr
XM_024447381.1:c.1073T>A	XP_024303149.1:p.Phe358Tyr
XM_024447382.1:c.767T>A	XP_024303150.1:p.Phe256Tyr
XR_001746160.2:n.2068T>A
XR_001746162.2:n.2273T>A
XR_001746164.1:n.1990T>A
XR_001746166.2:n.2285T>A
NM_001077365.2:c.1898T>A MANE Select	NP_001070833.1:p.Phe633Tyr
NM_001077366.2:c.1736T>A	NP_001070834.1:p.Phe579Tyr
NM_001136113.2:c.1898T>A	NP_001129585.1:p.Phe633Tyr
NM_001136114.2:c.1547T>A	NP_001129586.1:p.Phe516Tyr
NM_001353193.2:c.1964T>A	NP_001340122.2:p.Phe655Tyr
NM_001353194.2:c.1736T>A	NP_001340123.1:p.Phe579Tyr
NM_001353195.2:c.1547T>A	NP_001340124.1:p.Phe516Tyr
NM_001353196.2:c.1808T>A	NP_001340125.1:p.Phe603Tyr
NM_001353197.2:c.1802T>A	NP_001340126.2:p.Phe601Tyr
NM_001353198.2:c.1802T>A	NP_001340127.2:p.Phe601Tyr
NM_001353199.2:c.1613T>A	NP_001340128.2:p.Phe538Tyr
NM_001353200.2:c.1442T>A	NP_001340129.1:p.Phe481Tyr
NM_001374689.1:c.1886T>A	NP_001361618.1:p.Phe629Tyr
NM_001374690.1:c.1679T>A	NP_001361619.1:p.Phe560Tyr
NM_001374691.1:c.1547T>A	NP_001361620.1:p.Phe516Tyr
NM_001374692.1:c.1547T>A	NP_001361621.1:p.Phe516Tyr
NM_001374693.1:c.1547T>A	NP_001361622.1:p.Phe516Tyr
NM_001374695.1:c.1508T>A	NP_001361624.1:p.Phe503Tyr
NM_007171.4:c.1964T>A	NP_009102.4:p.Phe655Tyr
NR_148391.2:n.1932T>A
NR_148392.2:n.2150T>A
NR_148393.2:n.2071T>A
NR_148394.2:n.1825T>A
NR_148395.2:n.2223T>A
NR_148396.2:n.1857T>A
NR_148397.2:n.1982T>A
NR_148398.2:n.1937T>A
NR_148399.2:n.2463T>A
NR_148400.2:n.2062T>A