Canonical Allele Identifier: CA388026664

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 623152
• ClinVar RCV Id: RCV000761257 ; RCV002286787
• dbSNP Id: rs1566462533
• MyVariant Identifiers: chr13:g.52515327C>G (hg19) ; chr13:g.51941191C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941191C>G , CM000675.2:g.51941191C>G	GRCh38
NC_000013.10:g.52515327C>G , CM000675.1:g.52515327C>G	GRCh37
NC_000013.9:g.51413328C>G	NCBI36
NG_008806.1:g.75304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1096G>C	ENSP00000489512.2:n.*1096G>C
ENST00000673864.2:c.*2190G>C	ENSP00000501045.2:n.*2190G>C
ENST00000674147.2:c.2825G>C	ENSP00000500964.2:p.Gly942Ala
ENST00000242839.10:c.3446G>C MANE Select	ENSP00000242839.5:p.Gly1149Ala
ENST00000344297.9:c.2825G>C	ENSP00000342559.5:p.Gly942Ala
ENST00000400366.6:c.3113G>C	ENSP00000383217.3:p.Gly1038Ala
ENST00000448424.7:c.3194G>C	ENSP00000416738.3:p.Gly1065Ala
ENST00000673772.1:c.3212G>C	ENSP00000501168.1:p.Gly1071Ala
ENST00000673867.1:n.3585G>C
ENST00000674126.1:n.3809G>C
ENST00000674147.1:c.2381G>C	ENSP00000500964.1:p.Gly794Ala
ENST00000242839.8:c.3446G>C	ENSP00000242839.4:p.Gly1149Ala
ENST00000344297.8:c.2825G>C	ENSP00000342559.5:p.Gly942Ala
ENST00000400366.5:c.3113G>C	ENSP00000383217.3:p.Gly1038Ala
ENST00000400370.8:c.2156G>C	ENSP00000383221.3:p.Gly719Ala
ENST00000418097.7:c.3251G>C	ENSP00000393343.2:p.Gly1084Ala
ENST00000448424.6:c.3212G>C	ENSP00000416738.2:p.Gly1071Ala
ENST00000634296.1:c.1224G>C
ENST00000634308.1:c.*547G>C	ENSP00000489234.1:n.*547G>C
ENST00000634620.1:n.4190G>C
ENST00000634810.1:n.2791G>C
ENST00000634844.1:c.3302G>C	ENSP00000489398.1:p.Gly1101Ala
NM_000053.3:c.3446G>C	NP_000044.2:p.Gly1149Ala
NM_001005918.2:c.2825G>C	NP_001005918.1:p.Gly942Ala
NM_001243182.1:c.3113G>C	NP_001230111.1:p.Gly1038Ala
XM_005266423.2:c.3350G>C	XP_005266480.1:p.Gly1117Ala
XM_005266424.3:c.3350G>C	XP_005266481.1:p.Gly1117Ala
XM_005266427.2:c.3212G>C	XP_005266484.1:p.Gly1071Ala
XM_005266428.1:c.3194G>C	XP_005266485.1:p.Gly1065Ala
XM_005266430.3:c.3446G>C	XP_005266487.1:p.Gly1149Ala
XM_005266431.2:c.3410G>C	XP_005266488.1:p.Gly1137Ala
XM_005266432.2:c.2960G>C	XP_005266489.1:p.Gly987Ala
XM_006719837.2:c.3350G>C	XP_006719900.1:p.Gly1117Ala
XM_006719838.1:c.1262G>C	XP_006719901.1:p.Gly421Ala
XM_006719839.1:c.1079G>C	XP_006719902.1:p.Gly360Ala
XM_011535117.1:c.3350G>C	XP_011533419.1:p.Gly1117Ala
XM_011535118.1:c.3311G>C	XP_011533420.1:p.Gly1104Ala
XM_011535119.1:c.3263G>C	XP_011533421.1:p.Gly1088Ala
XM_011535120.1:c.3032G>C	XP_011533422.1:p.Gly1011Ala
XM_011535121.1:c.2933G>C	XP_011533423.1:p.Gly978Ala
XM_011535122.1:c.2114G>C	XP_011533424.1:p.Gly705Ala
XR_941601.1:n.3665G>C
XR_941602.1:n.3665G>C
XR_941603.1:n.3665G>C
XR_941604.1:n.3665G>C
NM_001330578.1:c.3212G>C	NP_001317507.1:p.Gly1071Ala
NM_001330579.1:c.3194G>C	NP_001317508.1:p.Gly1065Ala
XM_005266424.4:c.3350G>C	XP_005266481.1:p.Gly1117Ala
XM_005266430.4:c.3446G>C	XP_005266487.1:p.Gly1149Ala
XM_005266431.4:c.3410G>C	XP_005266488.1:p.Gly1137Ala
XM_006719837.3:c.3350G>C	XP_006719900.1:p.Gly1117Ala
XM_011535117.3:c.3350G>C	XP_011533419.1:p.Gly1117Ala
XM_017020627.1:c.3350G>C	XP_016876116.1:p.Gly1117Ala
NM_000053.4:c.3446G>C MANE Select	NP_000044.2:p.Gly1149Ala
NM_001005918.3:c.2825G>C	NP_001005918.1:p.Gly942Ala
NM_001330579.2:c.3194G>C	NP_001317508.1:p.Gly1065Ala
NM_001243182.2:c.3113G>C	NP_001230111.1:p.Gly1038Ala
NM_001330578.2:c.3212G>C	NP_001317507.1:p.Gly1071Ala