Canonical Allele Identifier: CA388021189

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1210360
• ClinVar RCV Id: RCV001580635
• dbSNP Id: rs1210164486
• MyVariant Identifiers: chr13:g.52511505T>C (hg19) ; chr13:g.51937369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937369T>C , CM000675.2:g.51937369T>C	GRCh38
NC_000013.10:g.52511505T>C , CM000675.1:g.52511505T>C	GRCh37
NC_000013.9:g.51409506T>C	NCBI36
NG_008806.1:g.79126A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1578A>G	ENSP00000489512.2:n.*1578A>G
ENST00000673864.2:c.*2672A>G	ENSP00000501045.2:n.*2672A>G
ENST00000674147.2:c.3307A>G	ENSP00000500964.2:p.Ser1103Gly
ENST00000242839.10:c.3928A>G MANE Select	ENSP00000242839.5:p.Ser1310Gly
ENST00000344297.9:c.3307A>G	ENSP00000342559.5:p.Ser1103Gly
ENST00000400366.6:c.3595A>G	ENSP00000383217.3:p.Ser1199Gly
ENST00000448424.7:c.3676A>G	ENSP00000416738.3:p.Ser1226Gly
ENST00000673696.1:n.1251A>G
ENST00000673772.1:c.3694A>G	ENSP00000501168.1:p.Ser1232Gly
ENST00000673867.1:n.4067A>G
ENST00000673923.1:n.794A>G
ENST00000674147.1:c.2863A>G	ENSP00000500964.1:p.Ser955Gly
ENST00000242839.8:c.3928A>G	ENSP00000242839.4:p.Ser1310Gly
ENST00000344297.8:c.3307A>G	ENSP00000342559.5:p.Ser1103Gly
ENST00000400366.5:c.3595A>G	ENSP00000383217.3:p.Ser1199Gly
ENST00000400370.8:c.2638A>G	ENSP00000383221.3:p.Ser880Gly
ENST00000418097.7:c.3733A>G	ENSP00000393343.2:p.Ser1245Gly
ENST00000448424.6:c.3694A>G	ENSP00000416738.2:p.Ser1232Gly
ENST00000634296.1:c.1706A>G
ENST00000634308.1:c.*1029A>G	ENSP00000489234.1:n.*1029A>G
ENST00000634620.1:n.4672A>G
ENST00000634810.1:n.3273A>G
ENST00000634844.1:c.3784A>G	ENSP00000489398.1:p.Ser1262Gly
NM_000053.3:c.3928A>G	NP_000044.2:p.Ser1310Gly
NM_001005918.2:c.3307A>G	NP_001005918.1:p.Ser1103Gly
NM_001243182.1:c.3595A>G	NP_001230111.1:p.Ser1199Gly
XM_005266423.2:c.3832A>G	XP_005266480.1:p.Ser1278Gly
XM_005266424.3:c.3832A>G	XP_005266481.1:p.Ser1278Gly
XM_005266427.2:c.3694A>G	XP_005266484.1:p.Ser1232Gly
XM_005266428.1:c.3676A>G	XP_005266485.1:p.Ser1226Gly
XM_005266430.3:c.3928A>G	XP_005266487.1:p.Ser1310Gly
XM_005266431.2:c.3892A>G	XP_005266488.1:p.Ser1298Gly
XM_005266432.2:c.3442A>G	XP_005266489.1:p.Ser1148Gly
XM_006719837.2:c.3832A>G	XP_006719900.1:p.Ser1278Gly
XM_006719838.1:c.1744A>G	XP_006719901.1:p.Ser582Gly
XM_006719839.1:c.1561A>G	XP_006719902.1:p.Ser521Gly
XM_011535117.1:c.3832A>G	XP_011533419.1:p.Ser1278Gly
XM_011535118.1:c.3793A>G	XP_011533420.1:p.Ser1265Gly
XM_011535119.1:c.3745A>G	XP_011533421.1:p.Ser1249Gly
XM_011535120.1:c.3514A>G	XP_011533422.1:p.Ser1172Gly
XM_011535121.1:c.3415A>G	XP_011533423.1:p.Ser1139Gly
XM_011535122.1:c.2596A>G	XP_011533424.1:p.Ser866Gly
XR_941601.1:n.4147A>G
XR_941602.1:n.4147A>G
XR_941603.1:n.4147A>G
XR_941604.1:n.4147A>G
NM_001330578.1:c.3694A>G	NP_001317507.1:p.Ser1232Gly
NM_001330579.1:c.3676A>G	NP_001317508.1:p.Ser1226Gly
XM_005266424.4:c.3832A>G	XP_005266481.1:p.Ser1278Gly
XM_005266430.4:c.3928A>G	XP_005266487.1:p.Ser1310Gly
XM_005266431.4:c.3892A>G	XP_005266488.1:p.Ser1298Gly
XM_006719837.3:c.3832A>G	XP_006719900.1:p.Ser1278Gly
XM_011535117.3:c.3832A>G	XP_011533419.1:p.Ser1278Gly
XM_017020627.1:c.3832A>G	XP_016876116.1:p.Ser1278Gly
NM_000053.4:c.3928A>G MANE Select	NP_000044.2:p.Ser1310Gly
NM_001005918.3:c.3307A>G	NP_001005918.1:p.Ser1103Gly
NM_001330579.2:c.3676A>G	NP_001317508.1:p.Ser1226Gly
NM_001243182.2:c.3595A>G	NP_001230111.1:p.Ser1199Gly
NM_001330578.2:c.3694A>G	NP_001317507.1:p.Ser1232Gly