Canonical Allele Identifier: CA483893704

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1493014
• ClinVar RCV Id: RCV003156369 ; RCV001984047
• dbSNP Id: rs1253901147
• gnomAD v4: 13-51939090-C-T
• MyVariant Identifiers: chr13:g.52513226C>T (hg19) ; chr13:g.51939090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939090C>T , CM000675.2:g.51939090C>T	GRCh38
NC_000013.10:g.52513226C>T , CM000675.1:g.52513226C>T	GRCh37
NC_000013.9:g.51411227C>T	NCBI36
NG_008806.1:g.77405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1310G>A	ENSP00000489512.2:n.*1310G>A
ENST00000673864.2:c.*2404G>A	ENSP00000501045.2:n.*2404G>A
ENST00000674147.2:c.3039G>A	ENSP00000500964.2:p.Thr1013=
ENST00000242839.10:c.3660G>A MANE Select	ENSP00000242839.5:p.Thr1220=
ENST00000344297.9:c.3039G>A	ENSP00000342559.5:p.Thr1013=
ENST00000400366.6:c.3327G>A	ENSP00000383217.3:p.Thr1109=
ENST00000448424.7:c.3408G>A	ENSP00000416738.3:p.Thr1136=
ENST00000673696.1:n.901G>A
ENST00000673772.1:c.3426G>A	ENSP00000501168.1:p.Thr1142=
ENST00000673867.1:n.3799G>A
ENST00000673923.1:n.526G>A
ENST00000674147.1:c.2595G>A	ENSP00000500964.1:p.Thr865=
ENST00000242839.8:c.3660G>A	ENSP00000242839.4:p.Thr1220=
ENST00000344297.8:c.3039G>A	ENSP00000342559.5:p.Thr1013=
ENST00000400366.5:c.3327G>A	ENSP00000383217.3:p.Thr1109=
ENST00000400370.8:c.2370G>A	ENSP00000383221.3:p.Thr790=
ENST00000418097.7:c.3465G>A	ENSP00000393343.2:p.Thr1155=
ENST00000448424.6:c.3426G>A	ENSP00000416738.2:p.Thr1142=
ENST00000634296.1:c.1438G>A
ENST00000634308.1:c.*761G>A	ENSP00000489234.1:n.*761G>A
ENST00000634620.1:n.4404G>A
ENST00000634810.1:n.3005G>A
ENST00000634844.1:c.3516G>A	ENSP00000489398.1:p.Thr1172=
NM_000053.3:c.3660G>A	NP_000044.2:p.Thr1220=
NM_001005918.2:c.3039G>A	NP_001005918.1:p.Thr1013=
NM_001243182.1:c.3327G>A	NP_001230111.1:p.Thr1109=
XM_005266423.2:c.3564G>A	XP_005266480.1:p.Thr1188=
XM_005266424.3:c.3564G>A	XP_005266481.1:p.Thr1188=
XM_005266427.2:c.3426G>A	XP_005266484.1:p.Thr1142=
XM_005266428.1:c.3408G>A	XP_005266485.1:p.Thr1136=
XM_005266430.3:c.3660G>A	XP_005266487.1:p.Thr1220=
XM_005266431.2:c.3624G>A	XP_005266488.1:p.Thr1208=
XM_005266432.2:c.3174G>A	XP_005266489.1:p.Thr1058=
XM_006719837.2:c.3564G>A	XP_006719900.1:p.Thr1188=
XM_006719838.1:c.1476G>A	XP_006719901.1:p.Thr492=
XM_006719839.1:c.1293G>A	XP_006719902.1:p.Thr431=
XM_011535117.1:c.3564G>A	XP_011533419.1:p.Thr1188=
XM_011535118.1:c.3525G>A	XP_011533420.1:p.Thr1175=
XM_011535119.1:c.3477G>A	XP_011533421.1:p.Thr1159=
XM_011535120.1:c.3246G>A	XP_011533422.1:p.Thr1082=
XM_011535121.1:c.3147G>A	XP_011533423.1:p.Thr1049=
XM_011535122.1:c.2328G>A	XP_011533424.1:p.Thr776=
XR_941601.1:n.3879G>A
XR_941602.1:n.3879G>A
XR_941603.1:n.3879G>A
XR_941604.1:n.3879G>A
NM_001330578.1:c.3426G>A	NP_001317507.1:p.Thr1142=
NM_001330579.1:c.3408G>A	NP_001317508.1:p.Thr1136=
XM_005266424.4:c.3564G>A	XP_005266481.1:p.Thr1188=
XM_005266430.4:c.3660G>A	XP_005266487.1:p.Thr1220=
XM_005266431.4:c.3624G>A	XP_005266488.1:p.Thr1208=
XM_006719837.3:c.3564G>A	XP_006719900.1:p.Thr1188=
XM_011535117.3:c.3564G>A	XP_011533419.1:p.Thr1188=
XM_017020627.1:c.3564G>A	XP_016876116.1:p.Thr1188=
NM_000053.4:c.3660G>A MANE Select	NP_000044.2:p.Thr1220=
NM_001005918.3:c.3039G>A	NP_001005918.1:p.Thr1013=
NM_001330579.2:c.3408G>A	NP_001317508.1:p.Thr1136=
NM_001243182.2:c.3327G>A	NP_001230111.1:p.Thr1109=
NM_001330578.2:c.3426G>A	NP_001317507.1:p.Thr1142=