Canonical Allele Identifier: CA388020221

Gene: ATP7B

Linked Data

• dbSNP Id: rs374924611
• gnomAD v3: 13-51935672-C-T
• gnomAD v4: 13-51935672-C-T
• MyVariant Identifiers: chr13:g.52509808C>T (hg19) ; chr13:g.51935672C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935672C>T , CM000675.2:g.51935672C>T	GRCh38
NC_000013.10:g.52509808C>T , CM000675.1:g.52509808C>T	GRCh37
NC_000013.9:g.51407809C>T	NCBI36
NG_008806.1:g.80823G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1695G>A	ENSP00000489512.2:n.*1695G>A
ENST00000673864.2:c.*2789G>A	ENSP00000501045.2:n.*2789G>A
ENST00000674147.2:c.3424G>A	ENSP00000500964.2:p.Val1142Met
ENST00000242839.10:c.4045G>A MANE Select	ENSP00000242839.5:p.Val1349Met
ENST00000344297.9:c.3424G>A	ENSP00000342559.5:p.Val1142Met
ENST00000400366.6:c.3712G>A	ENSP00000383217.3:p.Val1238Met
ENST00000448424.7:c.3793G>A	ENSP00000416738.3:p.Val1265Met
ENST00000673696.1:n.1368G>A
ENST00000673772.1:c.3811G>A	ENSP00000501168.1:p.Val1271Met
ENST00000673867.1:n.4184G>A
ENST00000673923.1:n.911G>A
ENST00000674147.1:c.2980G>A	ENSP00000500964.1:p.Val994Met
ENST00000242839.8:c.4045G>A	ENSP00000242839.4:p.Val1349Met
ENST00000344297.8:c.3424G>A	ENSP00000342559.5:p.Val1142Met
ENST00000400366.5:c.3712G>A	ENSP00000383217.3:p.Val1238Met
ENST00000400370.8:c.2755G>A	ENSP00000383221.3:p.Val919Met
ENST00000418097.7:c.3850G>A	ENSP00000393343.2:p.Val1284Met
ENST00000448424.6:c.3811G>A	ENSP00000416738.2:p.Val1271Met
ENST00000634296.1:c.1823G>A
ENST00000634308.1:c.*1146G>A	ENSP00000489234.1:n.*1146G>A
ENST00000634620.1:n.4789G>A
ENST00000634810.1:n.3390G>A
ENST00000634844.1:c.3901G>A	ENSP00000489398.1:p.Val1301Met
NM_000053.3:c.4045G>A	NP_000044.2:p.Val1349Met
NM_001005918.2:c.3424G>A	NP_001005918.1:p.Val1142Met
NM_001243182.1:c.3712G>A	NP_001230111.1:p.Val1238Met
XM_005266423.2:c.3949G>A	XP_005266480.1:p.Val1317Met
XM_005266424.3:c.3949G>A	XP_005266481.1:p.Val1317Met
XM_005266427.2:c.3811G>A	XP_005266484.1:p.Val1271Met
XM_005266428.1:c.3793G>A	XP_005266485.1:p.Val1265Met
XM_005266430.3:c.4045G>A	XP_005266487.1:p.Val1349Met
XM_005266431.2:c.4009G>A	XP_005266488.1:p.Val1337Met
XM_005266432.2:c.3559G>A	XP_005266489.1:p.Val1187Met
XM_006719837.2:c.3949G>A	XP_006719900.1:p.Val1317Met
XM_006719838.1:c.1861G>A	XP_006719901.1:p.Val621Met
XM_006719839.1:c.1678G>A	XP_006719902.1:p.Val560Met
XM_011535117.1:c.3949G>A	XP_011533419.1:p.Val1317Met
XM_011535118.1:c.3910G>A	XP_011533420.1:p.Val1304Met
XM_011535119.1:c.3862G>A	XP_011533421.1:p.Val1288Met
XM_011535120.1:c.3631G>A	XP_011533422.1:p.Val1211Met
XM_011535121.1:c.3532G>A	XP_011533423.1:p.Val1178Met
XM_011535122.1:c.2713G>A	XP_011533424.1:p.Val905Met
XR_941601.1:n.4264G>A
XR_941602.1:n.4264G>A
XR_941603.1:n.4264G>A
XR_941604.1:n.4264G>A
NM_001330578.1:c.3811G>A	NP_001317507.1:p.Val1271Met
NM_001330579.1:c.3793G>A	NP_001317508.1:p.Val1265Met
XM_005266424.4:c.3949G>A	XP_005266481.1:p.Val1317Met
XM_005266430.4:c.4045G>A	XP_005266487.1:p.Val1349Met
XM_005266431.4:c.4009G>A	XP_005266488.1:p.Val1337Met
XM_006719837.3:c.3949G>A	XP_006719900.1:p.Val1317Met
XM_011535117.3:c.3949G>A	XP_011533419.1:p.Val1317Met
XM_017020627.1:c.3949G>A	XP_016876116.1:p.Val1317Met
NM_000053.4:c.4045G>A MANE Select	NP_000044.2:p.Val1349Met
NM_001005918.3:c.3424G>A	NP_001005918.1:p.Val1142Met
NM_001330579.2:c.3793G>A	NP_001317508.1:p.Val1265Met
NM_001243182.2:c.3712G>A	NP_001230111.1:p.Val1238Met
NM_001330578.2:c.3811G>A	NP_001317507.1:p.Val1271Met