Canonical Allele Identifier: CA375314504

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397539A>T (hg19) ; chr9:g.131522152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522152A>T , CM000671.2:g.131522152A>T	GRCh38
NC_000009.11:g.134397539A>T , CM000671.1:g.134397539A>T	GRCh37
NC_000009.10:g.133387360A>T	NCBI36
NG_008896.1:g.24251A>T
NG_008896.2:g.24251A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1769A>T	ENSP00000343034.7:p.Tyr590Phe
ENST00000404875.7:n.2471A>T
ENST00000423007.6:c.1988A>T	ENSP00000404119.2:p.Tyr663Phe
ENST00000677295.2:c.*2275A>T	ENSP00000504346.2:n.*2275A>T
ENST00000678264.2:c.*2114A>T	ENSP00000503157.2:n.*2114A>T
ENST00000682070.1:n.2291-50A>T
ENST00000682813.1:n.2335A>T
ENST00000683392.1:n.4573-50A>T
ENST00000683712.1:n.2336A>T
ENST00000683900.1:n.3831A>T
ENST00000684062.1:n.2597A>T
ENST00000684579.1:n.3777A>T
ENST00000684679.1:n.1158A>T
ENST00000341012.12:c.1769A>T	ENSP00000343034.7:p.Tyr590Phe
ENST00000372220.5:c.800A>T	ENSP00000361294.5:p.Tyr267Phe
ENST00000372228.9:c.1997A>T	ENSP00000361302.3:p.Tyr666Phe
ENST00000402686.8:c.1931A>T MANE Select	ENSP00000385797.4:p.Tyr644Phe
ENST00000676640.1:c.1931A>T	ENSP00000503281.1:p.Tyr644Phe
ENST00000676803.1:c.992A>T	ENSP00000503093.1:p.Tyr331Phe
ENST00000676835.1:c.*1146A>T	ENSP00000502911.1:n.*1146A>T
ENST00000677029.1:c.1475A>T	ENSP00000502936.1:p.Tyr492Phe
ENST00000677099.1:c.*1641A>T	ENSP00000504553.1:n.*1641A>T
ENST00000677216.1:c.1580A>T	ENSP00000503772.1:p.Tyr527Phe
ENST00000677221.1:n.956A>T
ENST00000677295.1:c.*1203-50A>T	ENSP00000504346.1:n.*1203-50A>T
ENST00000677444.1:c.1876A>T
ENST00000677586.1:n.1298A>T
ENST00000677626.1:c.1580A>T	ENSP00000503552.1:p.Tyr527Phe
ENST00000677853.1:c.*939A>T	ENSP00000503488.1:n.*939A>T
ENST00000678202.1:n.1090A>T
ENST00000678264.1:c.*1308A>T	ENSP00000503157.1:n.*1308A>T
ENST00000678303.1:c.1841A>T	ENSP00000503696.1:p.Tyr614Phe
ENST00000678366.1:c.*2180A>T	ENSP00000504353.1:n.*2180A>T
ENST00000678546.1:c.*1876A>T	ENSP00000503062.1:n.*1876A>T
ENST00000678548.1:c.*2070A>T	ENSP00000503934.1:n.*2070A>T
ENST00000678626.1:n.1767A>T
ENST00000678739.1:c.*2147-50A>T	ENSP00000503806.1:n.*2147-50A>T
ENST00000678833.1:c.*1683A>T	ENSP00000503893.1:n.*1683A>T
ENST00000679023.1:c.1769A>T	ENSP00000503718.1:p.Tyr590Phe
ENST00000679076.1:c.1550A>T
ENST00000679111.1:c.*687A>T	ENSP00000504257.1:n.*687A>T
ENST00000679189.1:c.1580A>T	ENSP00000503356.1:p.Tyr527Phe
ENST00000341012.11:c.1769A>T	ENSP00000343034.7:p.Tyr590Phe
ENST00000372220.4:c.794A>T	ENSP00000361294.4:p.Tyr265Phe
ENST00000372228.7:c.1997A>T	ENSP00000361302.3:p.Tyr666Phe
ENST00000402686.7:c.1931A>T	ENSP00000385797.3:p.Tyr644Phe
ENST00000404875.6:c.1580A>T	ENSP00000384531.2:p.Tyr527Phe
ENST00000423007.5:c.1931A>T	ENSP00000404119.1:p.Tyr644Phe
ENST00000485278.5:n.2481A>T
ENST00000494883.1:n.474A>T
NM_001077365.1:c.1931A>T	NP_001070833.1:p.Tyr644Phe
NM_001077366.1:c.1769A>T	NP_001070834.1:p.Tyr590Phe
NM_001136113.1:c.1931A>T	NP_001129585.1:p.Tyr644Phe
NM_001136114.1:c.1580A>T	NP_001129586.1:p.Tyr527Phe
NM_007171.3:c.1997A>T	NP_009102.3:p.Tyr666Phe
XM_005272156.1:c.1997A>T	XP_005272213.1:p.Tyr666Phe
XM_005272158.1:c.1835A>T	XP_005272215.1:p.Tyr612Phe
XM_005272159.1:c.1646A>T	XP_005272216.1:p.Tyr549Phe
XM_005272162.1:c.800A>T	XP_005272219.1:p.Tyr267Phe
XM_006716932.1:c.1646A>T	XP_006716995.1:p.Tyr549Phe
XM_011518140.1:c.1850A>T	XP_011516442.1:p.Tyr617Phe
XM_011518141.1:c.1784A>T	XP_011516443.1:p.Tyr595Phe
XM_011518142.1:c.1688A>T	XP_011516444.1:p.Tyr563Phe
XM_011518143.1:c.1682A>T	XP_011516445.1:p.Tyr561Phe
XM_011518145.1:c.1541A>T	XP_011516447.1:p.Tyr514Phe
XM_011518147.1:c.869A>T	XP_011516449.1:p.Tyr290Phe
XR_929703.1:n.2173A>T
NM_001353193.1:c.1997A>T	NP_001340122.1:p.Tyr666Phe
NM_001353194.1:c.1769A>T	NP_001340123.1:p.Tyr590Phe
NM_001353195.1:c.1580A>T	NP_001340124.1:p.Tyr527Phe
NM_001353196.1:c.1841A>T	NP_001340125.1:p.Tyr614Phe
NM_001353197.1:c.1835A>T	NP_001340126.1:p.Tyr612Phe
NM_001353198.1:c.1835A>T	NP_001340127.1:p.Tyr612Phe
NM_001353199.1:c.1646A>T	NP_001340128.1:p.Tyr549Phe
NM_001353200.1:c.1475A>T	NP_001340129.1:p.Tyr492Phe
NR_148391.1:n.1981A>T
NR_148392.1:n.2199A>T
NR_148393.1:n.2120A>T
NR_148394.1:n.1874A>T
NR_148395.1:n.2272A>T
NR_148396.1:n.1906A>T
NR_148397.1:n.2031A>T
NR_148398.1:n.1986A>T
NR_148399.1:n.2512A>T
NR_148400.1:n.2111A>T
XM_005272162.3:c.800A>T	XP_005272219.1:p.Tyr267Phe
XM_006716932.2:c.1646A>T	XP_006716995.1:p.Tyr549Phe
XM_011518140.2:c.1850A>T	XP_011516442.1:p.Tyr617Phe
XM_011518141.2:c.1784A>T	XP_011516443.1:p.Tyr595Phe
XM_011518142.2:c.1688A>T	XP_011516444.1:p.Tyr563Phe
XM_011518143.2:c.1682A>T	XP_011516445.1:p.Tyr561Phe
XM_011518145.2:c.1541A>T	XP_011516447.1:p.Tyr514Phe
XM_017014205.2:c.800A>T	XP_016869694.1:p.Tyr267Phe
XM_024447380.1:c.800A>T	XP_024303148.1:p.Tyr267Phe
XM_024447381.1:c.1106A>T	XP_024303149.1:p.Tyr369Phe
XM_024447382.1:c.800A>T	XP_024303150.1:p.Tyr267Phe
XR_001746160.2:n.2101A>T
XR_001746162.2:n.2306A>T
XR_001746164.1:n.2023A>T
XR_001746166.2:n.2318A>T
NM_001077365.2:c.1931A>T MANE Select	NP_001070833.1:p.Tyr644Phe
NM_001077366.2:c.1769A>T	NP_001070834.1:p.Tyr590Phe
NM_001136113.2:c.1931A>T	NP_001129585.1:p.Tyr644Phe
NM_001136114.2:c.1580A>T	NP_001129586.1:p.Tyr527Phe
NM_001353193.2:c.1997A>T	NP_001340122.2:p.Tyr666Phe
NM_001353194.2:c.1769A>T	NP_001340123.1:p.Tyr590Phe
NM_001353195.2:c.1580A>T	NP_001340124.1:p.Tyr527Phe
NM_001353196.2:c.1841A>T	NP_001340125.1:p.Tyr614Phe
NM_001353197.2:c.1835A>T	NP_001340126.2:p.Tyr612Phe
NM_001353198.2:c.1835A>T	NP_001340127.2:p.Tyr612Phe
NM_001353199.2:c.1646A>T	NP_001340128.2:p.Tyr549Phe
NM_001353200.2:c.1475A>T	NP_001340129.1:p.Tyr492Phe
NM_001374689.1:c.1919A>T	NP_001361618.1:p.Tyr640Phe
NM_001374690.1:c.1712A>T	NP_001361619.1:p.Tyr571Phe
NM_001374691.1:c.1580A>T	NP_001361620.1:p.Tyr527Phe
NM_001374692.1:c.1580A>T	NP_001361621.1:p.Tyr527Phe
NM_001374693.1:c.1580A>T	NP_001361622.1:p.Tyr527Phe
NM_001374695.1:c.1541A>T	NP_001361624.1:p.Tyr514Phe
NM_007171.4:c.1997A>T	NP_009102.4:p.Tyr666Phe
NR_148391.2:n.1965A>T
NR_148392.2:n.2183A>T
NR_148393.2:n.2104A>T
NR_148394.2:n.1858A>T
NR_148395.2:n.2256A>T
NR_148396.2:n.1890A>T
NR_148397.2:n.2015A>T
NR_148398.2:n.1970A>T
NR_148399.2:n.2496A>T
NR_148400.2:n.2095A>T