Canonical Allele Identifier: CA375314323

Gene: POMT1

Linked Data

• dbSNP Id: rs1425981098
• MyVariant Identifiers: chr9:g.134397494A>C (hg19) ; chr9:g.131522107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522107A>C , CM000671.2:g.131522107A>C	GRCh38
NC_000009.11:g.134397494A>C , CM000671.1:g.134397494A>C	GRCh37
NC_000009.10:g.133387315A>C	NCBI36
NG_008896.1:g.24206A>C
NG_008896.2:g.24206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1724A>C	ENSP00000343034.7:p.Tyr575Ser
ENST00000404875.7:n.2426A>C
ENST00000423007.6:c.1943A>C	ENSP00000404119.2:p.Tyr648Ser
ENST00000677295.2:c.*2230A>C	ENSP00000504346.2:n.*2230A>C
ENST00000678264.2:c.*2069A>C	ENSP00000503157.2:n.*2069A>C
ENST00000682070.1:n.2291-95A>C
ENST00000682813.1:n.2290A>C
ENST00000683392.1:n.4573-95A>C
ENST00000683712.1:n.2291A>C
ENST00000683900.1:n.3786A>C
ENST00000684062.1:n.2552A>C
ENST00000684579.1:n.3732A>C
ENST00000684679.1:n.1113A>C
ENST00000341012.12:c.1724A>C	ENSP00000343034.7:p.Tyr575Ser
ENST00000372220.5:c.755A>C	ENSP00000361294.5:p.Tyr252Ser
ENST00000372228.9:c.1952A>C	ENSP00000361302.3:p.Tyr651Ser
ENST00000402686.8:c.1886A>C MANE Select	ENSP00000385797.4:p.Tyr629Ser
ENST00000676640.1:c.1886A>C	ENSP00000503281.1:p.Tyr629Ser
ENST00000676803.1:c.947A>C	ENSP00000503093.1:p.Tyr316Ser
ENST00000676835.1:c.*1101A>C	ENSP00000502911.1:n.*1101A>C
ENST00000677029.1:c.1430A>C	ENSP00000502936.1:p.Tyr477Ser
ENST00000677099.1:c.*1596A>C	ENSP00000504553.1:n.*1596A>C
ENST00000677216.1:c.1535A>C	ENSP00000503772.1:p.Tyr512Ser
ENST00000677221.1:n.911A>C
ENST00000677295.1:c.*1203-95A>C	ENSP00000504346.1:n.*1203-95A>C
ENST00000677444.1:c.1831A>C
ENST00000677586.1:n.1253A>C
ENST00000677626.1:c.1535A>C	ENSP00000503552.1:p.Tyr512Ser
ENST00000677853.1:c.*894A>C	ENSP00000503488.1:n.*894A>C
ENST00000678202.1:n.1045A>C
ENST00000678264.1:c.*1263A>C	ENSP00000503157.1:n.*1263A>C
ENST00000678303.1:c.1796A>C	ENSP00000503696.1:p.Tyr599Ser
ENST00000678366.1:c.*2135A>C	ENSP00000504353.1:n.*2135A>C
ENST00000678546.1:c.*1831A>C	ENSP00000503062.1:n.*1831A>C
ENST00000678548.1:c.*2025A>C	ENSP00000503934.1:n.*2025A>C
ENST00000678626.1:n.1722A>C
ENST00000678739.1:c.*2147-95A>C	ENSP00000503806.1:n.*2147-95A>C
ENST00000678833.1:c.*1638A>C	ENSP00000503893.1:n.*1638A>C
ENST00000679023.1:c.1724A>C	ENSP00000503718.1:p.Tyr575Ser
ENST00000679076.1:c.1505A>C
ENST00000679111.1:c.*642A>C	ENSP00000504257.1:n.*642A>C
ENST00000679189.1:c.1535A>C	ENSP00000503356.1:p.Tyr512Ser
ENST00000341012.11:c.1724A>C	ENSP00000343034.7:p.Tyr575Ser
ENST00000372220.4:c.749A>C	ENSP00000361294.4:p.Tyr250Ser
ENST00000372228.7:c.1952A>C	ENSP00000361302.3:p.Tyr651Ser
ENST00000402686.7:c.1886A>C	ENSP00000385797.3:p.Tyr629Ser
ENST00000404875.6:c.1535A>C	ENSP00000384531.2:p.Tyr512Ser
ENST00000423007.5:c.1886A>C	ENSP00000404119.1:p.Tyr629Ser
ENST00000485278.5:n.2436A>C
ENST00000494883.1:n.429A>C
NM_001077365.1:c.1886A>C	NP_001070833.1:p.Tyr629Ser
NM_001077366.1:c.1724A>C	NP_001070834.1:p.Tyr575Ser
NM_001136113.1:c.1886A>C	NP_001129585.1:p.Tyr629Ser
NM_001136114.1:c.1535A>C	NP_001129586.1:p.Tyr512Ser
NM_007171.3:c.1952A>C	NP_009102.3:p.Tyr651Ser
XM_005272156.1:c.1952A>C	XP_005272213.1:p.Tyr651Ser
XM_005272158.1:c.1790A>C	XP_005272215.1:p.Tyr597Ser
XM_005272159.1:c.1601A>C	XP_005272216.1:p.Tyr534Ser
XM_005272162.1:c.755A>C	XP_005272219.1:p.Tyr252Ser
XM_006716932.1:c.1601A>C	XP_006716995.1:p.Tyr534Ser
XM_011518140.1:c.1805A>C	XP_011516442.1:p.Tyr602Ser
XM_011518141.1:c.1739A>C	XP_011516443.1:p.Tyr580Ser
XM_011518142.1:c.1643A>C	XP_011516444.1:p.Tyr548Ser
XM_011518143.1:c.1637A>C	XP_011516445.1:p.Tyr546Ser
XM_011518145.1:c.1496A>C	XP_011516447.1:p.Tyr499Ser
XM_011518147.1:c.824A>C	XP_011516449.1:p.Tyr275Ser
XR_929703.1:n.2128A>C
NM_001353193.1:c.1952A>C	NP_001340122.1:p.Tyr651Ser
NM_001353194.1:c.1724A>C	NP_001340123.1:p.Tyr575Ser
NM_001353195.1:c.1535A>C	NP_001340124.1:p.Tyr512Ser
NM_001353196.1:c.1796A>C	NP_001340125.1:p.Tyr599Ser
NM_001353197.1:c.1790A>C	NP_001340126.1:p.Tyr597Ser
NM_001353198.1:c.1790A>C	NP_001340127.1:p.Tyr597Ser
NM_001353199.1:c.1601A>C	NP_001340128.1:p.Tyr534Ser
NM_001353200.1:c.1430A>C	NP_001340129.1:p.Tyr477Ser
NR_148391.1:n.1936A>C
NR_148392.1:n.2154A>C
NR_148393.1:n.2075A>C
NR_148394.1:n.1829A>C
NR_148395.1:n.2227A>C
NR_148396.1:n.1861A>C
NR_148397.1:n.1986A>C
NR_148398.1:n.1941A>C
NR_148399.1:n.2467A>C
NR_148400.1:n.2066A>C
XM_005272162.3:c.755A>C	XP_005272219.1:p.Tyr252Ser
XM_006716932.2:c.1601A>C	XP_006716995.1:p.Tyr534Ser
XM_011518140.2:c.1805A>C	XP_011516442.1:p.Tyr602Ser
XM_011518141.2:c.1739A>C	XP_011516443.1:p.Tyr580Ser
XM_011518142.2:c.1643A>C	XP_011516444.1:p.Tyr548Ser
XM_011518143.2:c.1637A>C	XP_011516445.1:p.Tyr546Ser
XM_011518145.2:c.1496A>C	XP_011516447.1:p.Tyr499Ser
XM_017014205.2:c.755A>C	XP_016869694.1:p.Tyr252Ser
XM_024447380.1:c.755A>C	XP_024303148.1:p.Tyr252Ser
XM_024447381.1:c.1061A>C	XP_024303149.1:p.Tyr354Ser
XM_024447382.1:c.755A>C	XP_024303150.1:p.Tyr252Ser
XR_001746160.2:n.2056A>C
XR_001746162.2:n.2261A>C
XR_001746164.1:n.1978A>C
XR_001746166.2:n.2273A>C
NM_001077365.2:c.1886A>C MANE Select	NP_001070833.1:p.Tyr629Ser
NM_001077366.2:c.1724A>C	NP_001070834.1:p.Tyr575Ser
NM_001136113.2:c.1886A>C	NP_001129585.1:p.Tyr629Ser
NM_001136114.2:c.1535A>C	NP_001129586.1:p.Tyr512Ser
NM_001353193.2:c.1952A>C	NP_001340122.2:p.Tyr651Ser
NM_001353194.2:c.1724A>C	NP_001340123.1:p.Tyr575Ser
NM_001353195.2:c.1535A>C	NP_001340124.1:p.Tyr512Ser
NM_001353196.2:c.1796A>C	NP_001340125.1:p.Tyr599Ser
NM_001353197.2:c.1790A>C	NP_001340126.2:p.Tyr597Ser
NM_001353198.2:c.1790A>C	NP_001340127.2:p.Tyr597Ser
NM_001353199.2:c.1601A>C	NP_001340128.2:p.Tyr534Ser
NM_001353200.2:c.1430A>C	NP_001340129.1:p.Tyr477Ser
NM_001374689.1:c.1874A>C	NP_001361618.1:p.Tyr625Ser
NM_001374690.1:c.1667A>C	NP_001361619.1:p.Tyr556Ser
NM_001374691.1:c.1535A>C	NP_001361620.1:p.Tyr512Ser
NM_001374692.1:c.1535A>C	NP_001361621.1:p.Tyr512Ser
NM_001374693.1:c.1535A>C	NP_001361622.1:p.Tyr512Ser
NM_001374695.1:c.1496A>C	NP_001361624.1:p.Tyr499Ser
NM_007171.4:c.1952A>C	NP_009102.4:p.Tyr651Ser
NR_148391.2:n.1920A>C
NR_148392.2:n.2138A>C
NR_148393.2:n.2059A>C
NR_148394.2:n.1813A>C
NR_148395.2:n.2211A>C
NR_148396.2:n.1845A>C
NR_148397.2:n.1970A>C
NR_148398.2:n.1925A>C
NR_148399.2:n.2451A>C
NR_148400.2:n.2050A>C