Canonical Allele Identifier: CA375314241

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397472G>T (hg19) ; chr9:g.131522085G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522085G>T , CM000671.2:g.131522085G>T	GRCh38
NC_000009.11:g.134397472G>T , CM000671.1:g.134397472G>T	GRCh37
NC_000009.10:g.133387293G>T	NCBI36
NG_008896.1:g.24184G>T
NG_008896.2:g.24184G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1702G>T	ENSP00000343034.7:p.Ala568Ser
ENST00000404875.7:n.2404G>T
ENST00000423007.6:c.1921G>T	ENSP00000404119.2:p.Ala641Ser
ENST00000677295.2:c.*2208G>T	ENSP00000504346.2:n.*2208G>T
ENST00000678264.2:c.*2047G>T	ENSP00000503157.2:n.*2047G>T
ENST00000682070.1:n.2291-117G>T
ENST00000682813.1:n.2268G>T
ENST00000683392.1:n.4573-117G>T
ENST00000683712.1:n.2269G>T
ENST00000683900.1:n.3764G>T
ENST00000684062.1:n.2530G>T
ENST00000684579.1:n.3710G>T
ENST00000684679.1:n.1091G>T
ENST00000341012.12:c.1702G>T	ENSP00000343034.7:p.Ala568Ser
ENST00000372220.5:c.733G>T	ENSP00000361294.5:p.Ala245Ser
ENST00000372228.9:c.1930G>T	ENSP00000361302.3:p.Ala644Ser
ENST00000402686.8:c.1864G>T MANE Select	ENSP00000385797.4:p.Ala622Ser
ENST00000676640.1:c.1864G>T	ENSP00000503281.1:p.Ala622Ser
ENST00000676803.1:c.925G>T	ENSP00000503093.1:p.Ala309Ser
ENST00000676835.1:c.*1079G>T	ENSP00000502911.1:n.*1079G>T
ENST00000677029.1:c.1408G>T	ENSP00000502936.1:p.Ala470Ser
ENST00000677099.1:c.*1574G>T	ENSP00000504553.1:n.*1574G>T
ENST00000677216.1:c.1513G>T	ENSP00000503772.1:p.Ala505Ser
ENST00000677221.1:n.889G>T
ENST00000677295.1:c.*1203-117G>T	ENSP00000504346.1:n.*1203-117G>T
ENST00000677444.1:c.1809G>T
ENST00000677586.1:n.1231G>T
ENST00000677626.1:c.1513G>T	ENSP00000503552.1:p.Ala505Ser
ENST00000677853.1:c.*872G>T	ENSP00000503488.1:n.*872G>T
ENST00000678202.1:n.1023G>T
ENST00000678264.1:c.*1241G>T	ENSP00000503157.1:n.*1241G>T
ENST00000678303.1:c.1774G>T	ENSP00000503696.1:p.Ala592Ser
ENST00000678366.1:c.*2113G>T	ENSP00000504353.1:n.*2113G>T
ENST00000678546.1:c.*1809G>T	ENSP00000503062.1:n.*1809G>T
ENST00000678548.1:c.*2003G>T	ENSP00000503934.1:n.*2003G>T
ENST00000678626.1:n.1700G>T
ENST00000678739.1:c.*2147-117G>T	ENSP00000503806.1:n.*2147-117G>T
ENST00000678833.1:c.*1616G>T	ENSP00000503893.1:n.*1616G>T
ENST00000679023.1:c.1702G>T	ENSP00000503718.1:p.Ala568Ser
ENST00000679076.1:c.1483G>T
ENST00000679111.1:c.*620G>T	ENSP00000504257.1:n.*620G>T
ENST00000679189.1:c.1513G>T	ENSP00000503356.1:p.Ala505Ser
ENST00000341012.11:c.1702G>T	ENSP00000343034.7:p.Ala568Ser
ENST00000372220.4:c.727G>T	ENSP00000361294.4:p.Ala243Ser
ENST00000372228.7:c.1930G>T	ENSP00000361302.3:p.Ala644Ser
ENST00000402686.7:c.1864G>T	ENSP00000385797.3:p.Ala622Ser
ENST00000404875.6:c.1513G>T	ENSP00000384531.2:p.Ala505Ser
ENST00000423007.5:c.1864G>T	ENSP00000404119.1:p.Ala622Ser
ENST00000485278.5:n.2414G>T
ENST00000494883.1:n.407G>T
NM_001077365.1:c.1864G>T	NP_001070833.1:p.Ala622Ser
NM_001077366.1:c.1702G>T	NP_001070834.1:p.Ala568Ser
NM_001136113.1:c.1864G>T	NP_001129585.1:p.Ala622Ser
NM_001136114.1:c.1513G>T	NP_001129586.1:p.Ala505Ser
NM_007171.3:c.1930G>T	NP_009102.3:p.Ala644Ser
XM_005272156.1:c.1930G>T	XP_005272213.1:p.Ala644Ser
XM_005272158.1:c.1768G>T	XP_005272215.1:p.Ala590Ser
XM_005272159.1:c.1579G>T	XP_005272216.1:p.Ala527Ser
XM_005272162.1:c.733G>T	XP_005272219.1:p.Ala245Ser
XM_006716932.1:c.1579G>T	XP_006716995.1:p.Ala527Ser
XM_011518140.1:c.1783G>T	XP_011516442.1:p.Ala595Ser
XM_011518141.1:c.1717G>T	XP_011516443.1:p.Ala573Ser
XM_011518142.1:c.1621G>T	XP_011516444.1:p.Ala541Ser
XM_011518143.1:c.1615G>T	XP_011516445.1:p.Ala539Ser
XM_011518145.1:c.1474G>T	XP_011516447.1:p.Ala492Ser
XM_011518147.1:c.802G>T	XP_011516449.1:p.Ala268Ser
XR_929703.1:n.2106G>T
NM_001353193.1:c.1930G>T	NP_001340122.1:p.Ala644Ser
NM_001353194.1:c.1702G>T	NP_001340123.1:p.Ala568Ser
NM_001353195.1:c.1513G>T	NP_001340124.1:p.Ala505Ser
NM_001353196.1:c.1774G>T	NP_001340125.1:p.Ala592Ser
NM_001353197.1:c.1768G>T	NP_001340126.1:p.Ala590Ser
NM_001353198.1:c.1768G>T	NP_001340127.1:p.Ala590Ser
NM_001353199.1:c.1579G>T	NP_001340128.1:p.Ala527Ser
NM_001353200.1:c.1408G>T	NP_001340129.1:p.Ala470Ser
NR_148391.1:n.1914G>T
NR_148392.1:n.2132G>T
NR_148393.1:n.2053G>T
NR_148394.1:n.1807G>T
NR_148395.1:n.2205G>T
NR_148396.1:n.1839G>T
NR_148397.1:n.1964G>T
NR_148398.1:n.1919G>T
NR_148399.1:n.2445G>T
NR_148400.1:n.2044G>T
XM_005272162.3:c.733G>T	XP_005272219.1:p.Ala245Ser
XM_006716932.2:c.1579G>T	XP_006716995.1:p.Ala527Ser
XM_011518140.2:c.1783G>T	XP_011516442.1:p.Ala595Ser
XM_011518141.2:c.1717G>T	XP_011516443.1:p.Ala573Ser
XM_011518142.2:c.1621G>T	XP_011516444.1:p.Ala541Ser
XM_011518143.2:c.1615G>T	XP_011516445.1:p.Ala539Ser
XM_011518145.2:c.1474G>T	XP_011516447.1:p.Ala492Ser
XM_017014205.2:c.733G>T	XP_016869694.1:p.Ala245Ser
XM_024447380.1:c.733G>T	XP_024303148.1:p.Ala245Ser
XM_024447381.1:c.1039G>T	XP_024303149.1:p.Ala347Ser
XM_024447382.1:c.733G>T	XP_024303150.1:p.Ala245Ser
XR_001746160.2:n.2034G>T
XR_001746162.2:n.2239G>T
XR_001746164.1:n.1956G>T
XR_001746166.2:n.2251G>T
NM_001077365.2:c.1864G>T MANE Select	NP_001070833.1:p.Ala622Ser
NM_001077366.2:c.1702G>T	NP_001070834.1:p.Ala568Ser
NM_001136113.2:c.1864G>T	NP_001129585.1:p.Ala622Ser
NM_001136114.2:c.1513G>T	NP_001129586.1:p.Ala505Ser
NM_001353193.2:c.1930G>T	NP_001340122.2:p.Ala644Ser
NM_001353194.2:c.1702G>T	NP_001340123.1:p.Ala568Ser
NM_001353195.2:c.1513G>T	NP_001340124.1:p.Ala505Ser
NM_001353196.2:c.1774G>T	NP_001340125.1:p.Ala592Ser
NM_001353197.2:c.1768G>T	NP_001340126.2:p.Ala590Ser
NM_001353198.2:c.1768G>T	NP_001340127.2:p.Ala590Ser
NM_001353199.2:c.1579G>T	NP_001340128.2:p.Ala527Ser
NM_001353200.2:c.1408G>T	NP_001340129.1:p.Ala470Ser
NM_001374689.1:c.1852G>T	NP_001361618.1:p.Ala618Ser
NM_001374690.1:c.1645G>T	NP_001361619.1:p.Ala549Ser
NM_001374691.1:c.1513G>T	NP_001361620.1:p.Ala505Ser
NM_001374692.1:c.1513G>T	NP_001361621.1:p.Ala505Ser
NM_001374693.1:c.1513G>T	NP_001361622.1:p.Ala505Ser
NM_001374695.1:c.1474G>T	NP_001361624.1:p.Ala492Ser
NM_007171.4:c.1930G>T	NP_009102.4:p.Ala644Ser
NR_148391.2:n.1898G>T
NR_148392.2:n.2116G>T
NR_148393.2:n.2037G>T
NR_148394.2:n.1791G>T
NR_148395.2:n.2189G>T
NR_148396.2:n.1823G>T
NR_148397.2:n.1948G>T
NR_148398.2:n.1903G>T
NR_148399.2:n.2429G>T
NR_148400.2:n.2028G>T