Canonical Allele Identifier: CA388020881

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 430024
• ClinVar RCV Id: RCV000494555 ; RCV000984147 ; RCV002527096
• dbSNP Id: rs1131691741
• gnomAD v3: 13-51937305-T-G
• gnomAD v4: 13-51937305-T-G
• MyVariant Identifiers: chr13:g.52511441T>G (hg19) ; chr13:g.51937305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937305T>G , CM000675.2:g.51937305T>G	GRCh38
NC_000013.10:g.52511441T>G , CM000675.1:g.52511441T>G	GRCh37
NC_000013.9:g.51409442T>G	NCBI36
NG_008806.1:g.79190A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1642A>C	ENSP00000489512.2:n.*1642A>C
ENST00000673864.2:c.*2736A>C	ENSP00000501045.2:n.*2736A>C
ENST00000674147.2:c.3371A>C	ENSP00000500964.2:p.Tyr1124Ser
ENST00000242839.10:c.3992A>C MANE Select	ENSP00000242839.5:p.Tyr1331Ser
ENST00000344297.9:c.3371A>C	ENSP00000342559.5:p.Tyr1124Ser
ENST00000400366.6:c.3659A>C	ENSP00000383217.3:p.Tyr1220Ser
ENST00000448424.7:c.3740A>C	ENSP00000416738.3:p.Tyr1247Ser
ENST00000673696.1:n.1315A>C
ENST00000673772.1:c.3758A>C	ENSP00000501168.1:p.Tyr1253Ser
ENST00000673867.1:n.4131A>C
ENST00000673923.1:n.858A>C
ENST00000674147.1:c.2927A>C	ENSP00000500964.1:p.Tyr976Ser
ENST00000242839.8:c.3992A>C	ENSP00000242839.4:p.Tyr1331Ser
ENST00000344297.8:c.3371A>C	ENSP00000342559.5:p.Tyr1124Ser
ENST00000400366.5:c.3659A>C	ENSP00000383217.3:p.Tyr1220Ser
ENST00000400370.8:c.2702A>C	ENSP00000383221.3:p.Tyr901Ser
ENST00000418097.7:c.3797A>C	ENSP00000393343.2:p.Tyr1266Ser
ENST00000448424.6:c.3758A>C	ENSP00000416738.2:p.Tyr1253Ser
ENST00000634296.1:c.1770A>C
ENST00000634308.1:c.*1093A>C	ENSP00000489234.1:n.*1093A>C
ENST00000634620.1:n.4736A>C
ENST00000634810.1:n.3337A>C
ENST00000634844.1:c.3848A>C	ENSP00000489398.1:p.Tyr1283Ser
NM_000053.3:c.3992A>C	NP_000044.2:p.Tyr1331Ser
NM_001005918.2:c.3371A>C	NP_001005918.1:p.Tyr1124Ser
NM_001243182.1:c.3659A>C	NP_001230111.1:p.Tyr1220Ser
XM_005266423.2:c.3896A>C	XP_005266480.1:p.Tyr1299Ser
XM_005266424.3:c.3896A>C	XP_005266481.1:p.Tyr1299Ser
XM_005266427.2:c.3758A>C	XP_005266484.1:p.Tyr1253Ser
XM_005266428.1:c.3740A>C	XP_005266485.1:p.Tyr1247Ser
XM_005266430.3:c.3992A>C	XP_005266487.1:p.Tyr1331Ser
XM_005266431.2:c.3956A>C	XP_005266488.1:p.Tyr1319Ser
XM_005266432.2:c.3506A>C	XP_005266489.1:p.Tyr1169Ser
XM_006719837.2:c.3896A>C	XP_006719900.1:p.Tyr1299Ser
XM_006719838.1:c.1808A>C	XP_006719901.1:p.Tyr603Ser
XM_006719839.1:c.1625A>C	XP_006719902.1:p.Tyr542Ser
XM_011535117.1:c.3896A>C	XP_011533419.1:p.Tyr1299Ser
XM_011535118.1:c.3857A>C	XP_011533420.1:p.Tyr1286Ser
XM_011535119.1:c.3809A>C	XP_011533421.1:p.Tyr1270Ser
XM_011535120.1:c.3578A>C	XP_011533422.1:p.Tyr1193Ser
XM_011535121.1:c.3479A>C	XP_011533423.1:p.Tyr1160Ser
XM_011535122.1:c.2660A>C	XP_011533424.1:p.Tyr887Ser
XR_941601.1:n.4211A>C
XR_941602.1:n.4211A>C
XR_941603.1:n.4211A>C
XR_941604.1:n.4211A>C
NM_001330578.1:c.3758A>C	NP_001317507.1:p.Tyr1253Ser
NM_001330579.1:c.3740A>C	NP_001317508.1:p.Tyr1247Ser
XM_005266424.4:c.3896A>C	XP_005266481.1:p.Tyr1299Ser
XM_005266430.4:c.3992A>C	XP_005266487.1:p.Tyr1331Ser
XM_005266431.4:c.3956A>C	XP_005266488.1:p.Tyr1319Ser
XM_006719837.3:c.3896A>C	XP_006719900.1:p.Tyr1299Ser
XM_011535117.3:c.3896A>C	XP_011533419.1:p.Tyr1299Ser
XM_017020627.1:c.3896A>C	XP_016876116.1:p.Tyr1299Ser
NM_000053.4:c.3992A>C MANE Select	NP_000044.2:p.Tyr1331Ser
NM_001005918.3:c.3371A>C	NP_001005918.1:p.Tyr1124Ser
NM_001330579.2:c.3740A>C	NP_001317508.1:p.Tyr1247Ser
NM_001243182.2:c.3659A>C	NP_001230111.1:p.Tyr1220Ser
NM_001330578.2:c.3758A>C	NP_001317507.1:p.Tyr1253Ser