Canonical Allele Identifier: CA375314641

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397577G>C (hg19) ; chr9:g.131522190G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522190G>C , CM000671.2:g.131522190G>C	GRCh38
NC_000009.11:g.134397577G>C , CM000671.1:g.134397577G>C	GRCh37
NC_000009.10:g.133387398G>C	NCBI36
NG_008896.1:g.24289G>C
NG_008896.2:g.24289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1807G>C	ENSP00000343034.7:p.Val603Leu
ENST00000404875.7:n.2509G>C
ENST00000423007.6:c.2026G>C	ENSP00000404119.2:p.Val676Leu
ENST00000677295.2:c.*2313G>C	ENSP00000504346.2:n.*2313G>C
ENST00000678264.2:c.*2152G>C	ENSP00000503157.2:n.*2152G>C
ENST00000682070.1:n.2291-12G>C
ENST00000682813.1:n.2373G>C
ENST00000683392.1:n.4573-12G>C
ENST00000683712.1:n.2374G>C
ENST00000683900.1:n.3869G>C
ENST00000684062.1:n.2635G>C
ENST00000684579.1:n.3815G>C
ENST00000684679.1:n.1196G>C
ENST00000341012.12:c.1807G>C	ENSP00000343034.7:p.Val603Leu
ENST00000372220.5:c.838G>C	ENSP00000361294.5:p.Val280Leu
ENST00000372228.9:c.2035G>C	ENSP00000361302.3:p.Val679Leu
ENST00000402686.8:c.1969G>C MANE Select	ENSP00000385797.4:p.Val657Leu
ENST00000676640.1:c.1969G>C	ENSP00000503281.1:p.Val657Leu
ENST00000676803.1:c.1030G>C	ENSP00000503093.1:p.Val344Leu
ENST00000676835.1:c.*1184G>C	ENSP00000502911.1:n.*1184G>C
ENST00000677029.1:c.1513G>C	ENSP00000502936.1:p.Val505Leu
ENST00000677099.1:c.*1679G>C	ENSP00000504553.1:n.*1679G>C
ENST00000677216.1:c.1618G>C	ENSP00000503772.1:p.Val540Leu
ENST00000677221.1:n.994G>C
ENST00000677295.1:c.*1203-12G>C	ENSP00000504346.1:n.*1203-12G>C
ENST00000677444.1:c.1914G>C
ENST00000677586.1:n.1336G>C
ENST00000677626.1:c.1618G>C	ENSP00000503552.1:p.Val540Leu
ENST00000677853.1:c.*977G>C	ENSP00000503488.1:n.*977G>C
ENST00000678202.1:n.1128G>C
ENST00000678264.1:c.*1346G>C	ENSP00000503157.1:n.*1346G>C
ENST00000678303.1:c.1879G>C	ENSP00000503696.1:p.Val627Leu
ENST00000678366.1:c.*2218G>C	ENSP00000504353.1:n.*2218G>C
ENST00000678546.1:c.*1914G>C	ENSP00000503062.1:n.*1914G>C
ENST00000678548.1:c.*2108G>C	ENSP00000503934.1:n.*2108G>C
ENST00000678626.1:n.1805G>C
ENST00000678739.1:c.*2147-12G>C	ENSP00000503806.1:n.*2147-12G>C
ENST00000678833.1:c.*1721G>C	ENSP00000503893.1:n.*1721G>C
ENST00000679023.1:c.1807G>C	ENSP00000503718.1:p.Val603Leu
ENST00000679076.1:c.1588G>C
ENST00000679111.1:c.*725G>C	ENSP00000504257.1:n.*725G>C
ENST00000679189.1:c.1618G>C	ENSP00000503356.1:p.Val540Leu
ENST00000341012.11:c.1807G>C	ENSP00000343034.7:p.Val603Leu
ENST00000372220.4:c.832G>C	ENSP00000361294.4:p.Val278Leu
ENST00000372228.7:c.2035G>C	ENSP00000361302.3:p.Val679Leu
ENST00000402686.7:c.1969G>C	ENSP00000385797.3:p.Val657Leu
ENST00000404875.6:c.1618G>C	ENSP00000384531.2:p.Val540Leu
ENST00000423007.5:c.1969G>C	ENSP00000404119.1:p.Val657Leu
ENST00000485278.5:n.2519G>C
ENST00000494883.1:n.512G>C
NM_001077365.1:c.1969G>C	NP_001070833.1:p.Val657Leu
NM_001077366.1:c.1807G>C	NP_001070834.1:p.Val603Leu
NM_001136113.1:c.1969G>C	NP_001129585.1:p.Val657Leu
NM_001136114.1:c.1618G>C	NP_001129586.1:p.Val540Leu
NM_007171.3:c.2035G>C	NP_009102.3:p.Val679Leu
XM_005272156.1:c.2035G>C	XP_005272213.1:p.Val679Leu
XM_005272158.1:c.1873G>C	XP_005272215.1:p.Val625Leu
XM_005272159.1:c.1684G>C	XP_005272216.1:p.Val562Leu
XM_005272162.1:c.838G>C	XP_005272219.1:p.Val280Leu
XM_006716932.1:c.1684G>C	XP_006716995.1:p.Val562Leu
XM_011518140.1:c.1888G>C	XP_011516442.1:p.Val630Leu
XM_011518141.1:c.1822G>C	XP_011516443.1:p.Val608Leu
XM_011518142.1:c.1726G>C	XP_011516444.1:p.Val576Leu
XM_011518143.1:c.1720G>C	XP_011516445.1:p.Val574Leu
XM_011518145.1:c.1579G>C	XP_011516447.1:p.Val527Leu
XM_011518147.1:c.907G>C	XP_011516449.1:p.Val303Leu
XR_929703.1:n.2211G>C
NM_001353193.1:c.2035G>C	NP_001340122.1:p.Val679Leu
NM_001353194.1:c.1807G>C	NP_001340123.1:p.Val603Leu
NM_001353195.1:c.1618G>C	NP_001340124.1:p.Val540Leu
NM_001353196.1:c.1879G>C	NP_001340125.1:p.Val627Leu
NM_001353197.1:c.1873G>C	NP_001340126.1:p.Val625Leu
NM_001353198.1:c.1873G>C	NP_001340127.1:p.Val625Leu
NM_001353199.1:c.1684G>C	NP_001340128.1:p.Val562Leu
NM_001353200.1:c.1513G>C	NP_001340129.1:p.Val505Leu
NR_148391.1:n.2019G>C
NR_148392.1:n.2237G>C
NR_148393.1:n.2158G>C
NR_148394.1:n.1912G>C
NR_148395.1:n.2310G>C
NR_148396.1:n.1944G>C
NR_148397.1:n.2069G>C
NR_148398.1:n.2024G>C
NR_148399.1:n.2550G>C
NR_148400.1:n.2149G>C
XM_005272162.3:c.838G>C	XP_005272219.1:p.Val280Leu
XM_006716932.2:c.1684G>C	XP_006716995.1:p.Val562Leu
XM_011518140.2:c.1888G>C	XP_011516442.1:p.Val630Leu
XM_011518141.2:c.1822G>C	XP_011516443.1:p.Val608Leu
XM_011518142.2:c.1726G>C	XP_011516444.1:p.Val576Leu
XM_011518143.2:c.1720G>C	XP_011516445.1:p.Val574Leu
XM_011518145.2:c.1579G>C	XP_011516447.1:p.Val527Leu
XM_017014205.2:c.838G>C	XP_016869694.1:p.Val280Leu
XM_024447380.1:c.838G>C	XP_024303148.1:p.Val280Leu
XM_024447381.1:c.1144G>C	XP_024303149.1:p.Val382Leu
XM_024447382.1:c.838G>C	XP_024303150.1:p.Val280Leu
XR_001746160.2:n.2139G>C
XR_001746162.2:n.2344G>C
XR_001746164.1:n.2061G>C
XR_001746166.2:n.2356G>C
NM_001077365.2:c.1969G>C MANE Select	NP_001070833.1:p.Val657Leu
NM_001077366.2:c.1807G>C	NP_001070834.1:p.Val603Leu
NM_001136113.2:c.1969G>C	NP_001129585.1:p.Val657Leu
NM_001136114.2:c.1618G>C	NP_001129586.1:p.Val540Leu
NM_001353193.2:c.2035G>C	NP_001340122.2:p.Val679Leu
NM_001353194.2:c.1807G>C	NP_001340123.1:p.Val603Leu
NM_001353195.2:c.1618G>C	NP_001340124.1:p.Val540Leu
NM_001353196.2:c.1879G>C	NP_001340125.1:p.Val627Leu
NM_001353197.2:c.1873G>C	NP_001340126.2:p.Val625Leu
NM_001353198.2:c.1873G>C	NP_001340127.2:p.Val625Leu
NM_001353199.2:c.1684G>C	NP_001340128.2:p.Val562Leu
NM_001353200.2:c.1513G>C	NP_001340129.1:p.Val505Leu
NM_001374689.1:c.1957G>C	NP_001361618.1:p.Val653Leu
NM_001374690.1:c.1750G>C	NP_001361619.1:p.Val584Leu
NM_001374691.1:c.1618G>C	NP_001361620.1:p.Val540Leu
NM_001374692.1:c.1618G>C	NP_001361621.1:p.Val540Leu
NM_001374693.1:c.1618G>C	NP_001361622.1:p.Val540Leu
NM_001374695.1:c.1579G>C	NP_001361624.1:p.Val527Leu
NM_007171.4:c.2035G>C	NP_009102.4:p.Val679Leu
NR_148391.2:n.2003G>C
NR_148392.2:n.2221G>C
NR_148393.2:n.2142G>C
NR_148394.2:n.1896G>C
NR_148395.2:n.2294G>C
NR_148396.2:n.1928G>C
NR_148397.2:n.2053G>C
NR_148398.2:n.2008G>C
NR_148399.2:n.2534G>C
NR_148400.2:n.2133G>C