Canonical Allele Identifier: CA6988635

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1948557
• ClinVar RCV Id: RCV002667828
• dbSNP Id: rs767681386
• ExAC: 13:52513317 C / A
• gnomAD v2: 13-52513317-C-A
• gnomAD v4: 13-51939181-C-A
• MyVariant Identifiers: chr13:g.52513317C>A (hg19) ; chr13:g.51939181C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939181C>A , CM000675.2:g.51939181C>A	GRCh38
NC_000013.10:g.52513317C>A , CM000675.1:g.52513317C>A	GRCh37
NC_000013.9:g.51411318C>A	NCBI36
NG_008806.1:g.77314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1219G>T	ENSP00000489512.2:n.*1219G>T
ENST00000673864.2:c.*2313G>T	ENSP00000501045.2:n.*2313G>T
ENST00000674147.2:c.2948G>T	ENSP00000500964.2:p.Gly983Val
ENST00000242839.10:c.3569G>T MANE Select	ENSP00000242839.5:p.Gly1190Val
ENST00000344297.9:c.2948G>T	ENSP00000342559.5:p.Gly983Val
ENST00000400366.6:c.3236G>T	ENSP00000383217.3:p.Gly1079Val
ENST00000448424.7:c.3317G>T	ENSP00000416738.3:p.Gly1106Val
ENST00000673696.1:n.810G>T
ENST00000673772.1:c.3335G>T	ENSP00000501168.1:p.Gly1112Val
ENST00000673867.1:n.3708G>T
ENST00000673923.1:n.435G>T
ENST00000674147.1:c.2504G>T	ENSP00000500964.1:p.Gly835Val
ENST00000242839.8:c.3569G>T	ENSP00000242839.4:p.Gly1190Val
ENST00000344297.8:c.2948G>T	ENSP00000342559.5:p.Gly983Val
ENST00000400366.5:c.3236G>T	ENSP00000383217.3:p.Gly1079Val
ENST00000400370.8:c.2279G>T	ENSP00000383221.3:p.Gly760Val
ENST00000418097.7:c.3374G>T	ENSP00000393343.2:p.Gly1125Val
ENST00000448424.6:c.3335G>T	ENSP00000416738.2:p.Gly1112Val
ENST00000634296.1:c.1347G>T
ENST00000634308.1:c.*670G>T	ENSP00000489234.1:n.*670G>T
ENST00000634620.1:n.4313G>T
ENST00000634810.1:n.2914G>T
ENST00000634844.1:c.3425G>T	ENSP00000489398.1:p.Gly1142Val
NM_000053.3:c.3569G>T	NP_000044.2:p.Gly1190Val
NM_001005918.2:c.2948G>T	NP_001005918.1:p.Gly983Val
NM_001243182.1:c.3236G>T	NP_001230111.1:p.Gly1079Val
XM_005266423.2:c.3473G>T	XP_005266480.1:p.Gly1158Val
XM_005266424.3:c.3473G>T	XP_005266481.1:p.Gly1158Val
XM_005266427.2:c.3335G>T	XP_005266484.1:p.Gly1112Val
XM_005266428.1:c.3317G>T	XP_005266485.1:p.Gly1106Val
XM_005266430.3:c.3569G>T	XP_005266487.1:p.Gly1190Val
XM_005266431.2:c.3533G>T	XP_005266488.1:p.Gly1178Val
XM_005266432.2:c.3083G>T	XP_005266489.1:p.Gly1028Val
XM_006719837.2:c.3473G>T	XP_006719900.1:p.Gly1158Val
XM_006719838.1:c.1385G>T	XP_006719901.1:p.Gly462Val
XM_006719839.1:c.1202G>T	XP_006719902.1:p.Gly401Val
XM_011535117.1:c.3473G>T	XP_011533419.1:p.Gly1158Val
XM_011535118.1:c.3434G>T	XP_011533420.1:p.Gly1145Val
XM_011535119.1:c.3386G>T	XP_011533421.1:p.Gly1129Val
XM_011535120.1:c.3155G>T	XP_011533422.1:p.Gly1052Val
XM_011535121.1:c.3056G>T	XP_011533423.1:p.Gly1019Val
XM_011535122.1:c.2237G>T	XP_011533424.1:p.Gly746Val
XR_941601.1:n.3788G>T
XR_941602.1:n.3788G>T
XR_941603.1:n.3788G>T
XR_941604.1:n.3788G>T
NM_001330578.1:c.3335G>T	NP_001317507.1:p.Gly1112Val
NM_001330579.1:c.3317G>T	NP_001317508.1:p.Gly1106Val
XM_005266424.4:c.3473G>T	XP_005266481.1:p.Gly1158Val
XM_005266430.4:c.3569G>T	XP_005266487.1:p.Gly1190Val
XM_005266431.4:c.3533G>T	XP_005266488.1:p.Gly1178Val
XM_006719837.3:c.3473G>T	XP_006719900.1:p.Gly1158Val
XM_011535117.3:c.3473G>T	XP_011533419.1:p.Gly1158Val
XM_017020627.1:c.3473G>T	XP_016876116.1:p.Gly1158Val
NM_000053.4:c.3569G>T MANE Select	NP_000044.2:p.Gly1190Val
NM_001005918.3:c.2948G>T	NP_001005918.1:p.Gly983Val
NM_001330579.2:c.3317G>T	NP_001317508.1:p.Gly1106Val
NM_001243182.2:c.3236G>T	NP_001230111.1:p.Gly1079Val
NM_001330578.2:c.3335G>T	NP_001317507.1:p.Gly1112Val