Canonical Allele Identifier: CA388026449

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3075288
• ClinVar RCV Id: RCV004015814
• gnomAD v4: 13-51941158-G-C
• MyVariant Identifiers: chr13:g.52515294G>C (hg19) ; chr13:g.51941158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941158G>C , CM000675.2:g.51941158G>C	GRCh38
NC_000013.10:g.52515294G>C , CM000675.1:g.52515294G>C	GRCh37
NC_000013.9:g.51413295G>C	NCBI36
NG_008806.1:g.75337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1129C>G	ENSP00000489512.2:n.*1129C>G
ENST00000673864.2:c.*2223C>G	ENSP00000501045.2:n.*2223C>G
ENST00000674147.2:c.2858C>G	ENSP00000500964.2:p.Thr953Ser
ENST00000242839.10:c.3479C>G MANE Select	ENSP00000242839.5:p.Thr1160Ser
ENST00000344297.9:c.2858C>G	ENSP00000342559.5:p.Thr953Ser
ENST00000400366.6:c.3146C>G	ENSP00000383217.3:p.Thr1049Ser
ENST00000448424.7:c.3227C>G	ENSP00000416738.3:p.Thr1076Ser
ENST00000673772.1:c.3245C>G	ENSP00000501168.1:p.Thr1082Ser
ENST00000673867.1:n.3618C>G
ENST00000674126.1:n.3842C>G
ENST00000674147.1:c.2414C>G	ENSP00000500964.1:p.Thr805Ser
ENST00000242839.8:c.3479C>G	ENSP00000242839.4:p.Thr1160Ser
ENST00000344297.8:c.2858C>G	ENSP00000342559.5:p.Thr953Ser
ENST00000400366.5:c.3146C>G	ENSP00000383217.3:p.Thr1049Ser
ENST00000400370.8:c.2189C>G	ENSP00000383221.3:p.Thr730Ser
ENST00000418097.7:c.3284C>G	ENSP00000393343.2:p.Thr1095Ser
ENST00000448424.6:c.3245C>G	ENSP00000416738.2:p.Thr1082Ser
ENST00000634296.1:c.1257C>G
ENST00000634308.1:c.*580C>G	ENSP00000489234.1:n.*580C>G
ENST00000634620.1:n.4223C>G
ENST00000634810.1:n.2824C>G
ENST00000634844.1:c.3335C>G	ENSP00000489398.1:p.Thr1112Ser
NM_000053.3:c.3479C>G	NP_000044.2:p.Thr1160Ser
NM_001005918.2:c.2858C>G	NP_001005918.1:p.Thr953Ser
NM_001243182.1:c.3146C>G	NP_001230111.1:p.Thr1049Ser
XM_005266423.2:c.3383C>G	XP_005266480.1:p.Thr1128Ser
XM_005266424.3:c.3383C>G	XP_005266481.1:p.Thr1128Ser
XM_005266427.2:c.3245C>G	XP_005266484.1:p.Thr1082Ser
XM_005266428.1:c.3227C>G	XP_005266485.1:p.Thr1076Ser
XM_005266430.3:c.3479C>G	XP_005266487.1:p.Thr1160Ser
XM_005266431.2:c.3443C>G	XP_005266488.1:p.Thr1148Ser
XM_005266432.2:c.2993C>G	XP_005266489.1:p.Thr998Ser
XM_006719837.2:c.3383C>G	XP_006719900.1:p.Thr1128Ser
XM_006719838.1:c.1295C>G	XP_006719901.1:p.Thr432Ser
XM_006719839.1:c.1112C>G	XP_006719902.1:p.Thr371Ser
XM_011535117.1:c.3383C>G	XP_011533419.1:p.Thr1128Ser
XM_011535118.1:c.3344C>G	XP_011533420.1:p.Thr1115Ser
XM_011535119.1:c.3296C>G	XP_011533421.1:p.Thr1099Ser
XM_011535120.1:c.3065C>G	XP_011533422.1:p.Thr1022Ser
XM_011535121.1:c.2966C>G	XP_011533423.1:p.Thr989Ser
XM_011535122.1:c.2147C>G	XP_011533424.1:p.Thr716Ser
XR_941601.1:n.3698C>G
XR_941602.1:n.3698C>G
XR_941603.1:n.3698C>G
XR_941604.1:n.3698C>G
NM_001330578.1:c.3245C>G	NP_001317507.1:p.Thr1082Ser
NM_001330579.1:c.3227C>G	NP_001317508.1:p.Thr1076Ser
XM_005266424.4:c.3383C>G	XP_005266481.1:p.Thr1128Ser
XM_005266430.4:c.3479C>G	XP_005266487.1:p.Thr1160Ser
XM_005266431.4:c.3443C>G	XP_005266488.1:p.Thr1148Ser
XM_006719837.3:c.3383C>G	XP_006719900.1:p.Thr1128Ser
XM_011535117.3:c.3383C>G	XP_011533419.1:p.Thr1128Ser
XM_017020627.1:c.3383C>G	XP_016876116.1:p.Thr1128Ser
NM_000053.4:c.3479C>G MANE Select	NP_000044.2:p.Thr1160Ser
NM_001005918.3:c.2858C>G	NP_001005918.1:p.Thr953Ser
NM_001330579.2:c.3227C>G	NP_001317508.1:p.Thr1076Ser
NM_001243182.2:c.3146C>G	NP_001230111.1:p.Thr1049Ser
NM_001330578.2:c.3245C>G	NP_001317507.1:p.Thr1082Ser