Canonical Allele Identifier: CA483893469

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1097824
• ClinVar RCV Id: RCV001419549
• dbSNP Id: rs2138558236
• gnomAD v4: 13-51937301-G-A
• MyVariant Identifiers: chr13:g.52511437G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937301G>A , CM000675.2:g.51937301G>A	GRCh38
NC_000013.10:g.52511437G>A , CM000675.1:g.52511437G>A	GRCh37
NC_000013.9:g.51409438G>A	NCBI36
NG_008806.1:g.79194C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1646C>T	ENSP00000489512.2:n.*1646C>T
ENST00000673864.2:c.*2740C>T	ENSP00000501045.2:n.*2740C>T
ENST00000674147.2:c.3375C>T	ENSP00000500964.2:p.Asn1125=
ENST00000242839.10:c.3996C>T MANE Select	ENSP00000242839.5:p.Asn1332=
ENST00000344297.9:c.3375C>T	ENSP00000342559.5:p.Asn1125=
ENST00000400366.6:c.3663C>T	ENSP00000383217.3:p.Asn1221=
ENST00000448424.7:c.3744C>T	ENSP00000416738.3:p.Asn1248=
ENST00000673696.1:n.1319C>T
ENST00000673772.1:c.3762C>T	ENSP00000501168.1:p.Asn1254=
ENST00000673867.1:n.4135C>T
ENST00000673923.1:n.862C>T
ENST00000674147.1:c.2931C>T	ENSP00000500964.1:p.Asn977=
ENST00000242839.8:c.3996C>T	ENSP00000242839.4:p.Asn1332=
ENST00000344297.8:c.3375C>T	ENSP00000342559.5:p.Asn1125=
ENST00000400366.5:c.3663C>T	ENSP00000383217.3:p.Asn1221=
ENST00000400370.8:c.2706C>T	ENSP00000383221.3:p.Asn902=
ENST00000418097.7:c.3801C>T	ENSP00000393343.2:p.Asn1267=
ENST00000448424.6:c.3762C>T	ENSP00000416738.2:p.Asn1254=
ENST00000634296.1:c.1774C>T
ENST00000634308.1:c.*1097C>T	ENSP00000489234.1:n.*1097C>T
ENST00000634620.1:n.4740C>T
ENST00000634810.1:n.3341C>T
ENST00000634844.1:c.3852C>T	ENSP00000489398.1:p.Asn1284=
NM_000053.3:c.3996C>T	NP_000044.2:p.Asn1332=
NM_001005918.2:c.3375C>T	NP_001005918.1:p.Asn1125=
NM_001243182.1:c.3663C>T	NP_001230111.1:p.Asn1221=
XM_005266423.2:c.3900C>T	XP_005266480.1:p.Asn1300=
XM_005266424.3:c.3900C>T	XP_005266481.1:p.Asn1300=
XM_005266427.2:c.3762C>T	XP_005266484.1:p.Asn1254=
XM_005266428.1:c.3744C>T	XP_005266485.1:p.Asn1248=
XM_005266430.3:c.3996C>T	XP_005266487.1:p.Asn1332=
XM_005266431.2:c.3960C>T	XP_005266488.1:p.Asn1320=
XM_005266432.2:c.3510C>T	XP_005266489.1:p.Asn1170=
XM_006719837.2:c.3900C>T	XP_006719900.1:p.Asn1300=
XM_006719838.1:c.1812C>T	XP_006719901.1:p.Asn604=
XM_006719839.1:c.1629C>T	XP_006719902.1:p.Asn543=
XM_011535117.1:c.3900C>T	XP_011533419.1:p.Asn1300=
XM_011535118.1:c.3861C>T	XP_011533420.1:p.Asn1287=
XM_011535119.1:c.3813C>T	XP_011533421.1:p.Asn1271=
XM_011535120.1:c.3582C>T	XP_011533422.1:p.Asn1194=
XM_011535121.1:c.3483C>T	XP_011533423.1:p.Asn1161=
XM_011535122.1:c.2664C>T	XP_011533424.1:p.Asn888=
XR_941601.1:n.4215C>T
XR_941602.1:n.4215C>T
XR_941603.1:n.4215C>T
XR_941604.1:n.4215C>T
NM_001330578.1:c.3762C>T	NP_001317507.1:p.Asn1254=
NM_001330579.1:c.3744C>T	NP_001317508.1:p.Asn1248=
XM_005266424.4:c.3900C>T	XP_005266481.1:p.Asn1300=
XM_005266430.4:c.3996C>T	XP_005266487.1:p.Asn1332=
XM_005266431.4:c.3960C>T	XP_005266488.1:p.Asn1320=
XM_006719837.3:c.3900C>T	XP_006719900.1:p.Asn1300=
XM_011535117.3:c.3900C>T	XP_011533419.1:p.Asn1300=
XM_017020627.1:c.3900C>T	XP_016876116.1:p.Asn1300=
NM_000053.4:c.3996C>T MANE Select	NP_000044.2:p.Asn1332=
NM_001005918.3:c.3375C>T	NP_001005918.1:p.Asn1125=
NM_001330579.2:c.3744C>T	NP_001317508.1:p.Asn1248=
NM_001243182.2:c.3663C>T	NP_001230111.1:p.Asn1221=
NM_001330578.2:c.3762C>T	NP_001317507.1:p.Asn1254=