Canonical Allele Identifier: CA388034326

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 811797
• ClinVar RCV Id: RCV001002164 ; RCV002261249
• dbSNP Id: rs1340729837
• gnomAD v2: 13-52524192-G-A
• gnomAD v4: 13-51950056-G-A
• MyVariant Identifiers: chr13:g.52524192G>A (hg19) ; chr13:g.51950056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950056G>A , CM000675.2:g.51950056G>A	GRCh38
NC_000013.10:g.52524192G>A , CM000675.1:g.52524192G>A	GRCh37
NC_000013.9:g.51422193G>A	NCBI36
NG_008806.1:g.66439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*514C>T	ENSP00000489512.2:n.*514C>T
ENST00000673864.2:c.*1425C>T	ENSP00000501045.2:n.*1425C>T
ENST00000674147.2:c.2195C>T	ENSP00000500964.2:p.Thr732Ile
ENST00000242839.10:c.2681C>T MANE Select	ENSP00000242839.5:p.Thr894Ile
ENST00000344297.9:c.2195C>T	ENSP00000342559.5:p.Thr732Ile
ENST00000400366.6:c.2348C>T	ENSP00000383217.3:p.Thr783Ile
ENST00000448424.7:c.2429C>T	ENSP00000416738.3:p.Thr810Ile
ENST00000673772.1:c.2447C>T	ENSP00000501168.1:p.Thr816Ile
ENST00000674147.1:c.1751C>T	ENSP00000500964.1:p.Thr584Ile
ENST00000242839.8:c.2681C>T	ENSP00000242839.4:p.Thr894Ile
ENST00000344297.8:c.2195C>T	ENSP00000342559.5:p.Thr732Ile
ENST00000400366.5:c.2348C>T	ENSP00000383217.3:p.Thr783Ile
ENST00000400370.8:c.1391C>T	ENSP00000383221.3:p.Thr464Ile
ENST00000418097.7:c.2681C>T	ENSP00000393343.2:p.Thr894Ile
ENST00000448424.6:c.2447C>T	ENSP00000416738.2:p.Thr816Ile
ENST00000634296.1:c.642C>T
ENST00000634308.1:c.2447C>T	ENSP00000489234.1:p.Thr816Ile
ENST00000634620.1:n.3479C>T
ENST00000634810.1:n.2026C>T
ENST00000634844.1:c.2537C>T	ENSP00000489398.1:p.Thr846Ile
ENST00000635406.1:n.212-3578C>T
NM_000053.3:c.2681C>T	NP_000044.2:p.Thr894Ile
NM_001005918.2:c.2195C>T	NP_001005918.1:p.Thr732Ile
NM_001243182.1:c.2348C>T	NP_001230111.1:p.Thr783Ile
XM_005266423.2:c.2585C>T	XP_005266480.1:p.Thr862Ile
XM_005266424.3:c.2585C>T	XP_005266481.1:p.Thr862Ile
XM_005266427.2:c.2447C>T	XP_005266484.1:p.Thr816Ile
XM_005266428.1:c.2429C>T	XP_005266485.1:p.Thr810Ile
XM_005266430.3:c.2681C>T	XP_005266487.1:p.Thr894Ile
XM_005266431.2:c.2645C>T	XP_005266488.1:p.Thr882Ile
XM_005266432.2:c.2195C>T	XP_005266489.1:p.Thr732Ile
XM_006719837.2:c.2585C>T	XP_006719900.1:p.Thr862Ile
XM_006719838.1:c.497C>T	XP_006719901.1:p.Thr166Ile
XM_006719839.1:c.497C>T	XP_006719902.1:p.Thr166Ile
XM_011535117.1:c.2585C>T	XP_011533419.1:p.Thr862Ile
XM_011535118.1:c.2681C>T	XP_011533420.1:p.Thr894Ile
XM_011535119.1:c.2681C>T	XP_011533421.1:p.Thr894Ile
XM_011535120.1:c.2267C>T	XP_011533422.1:p.Thr756Ile
XM_011535121.1:c.2681C>T	XP_011533423.1:p.Thr894Ile
XM_011535122.1:c.1349C>T	XP_011533424.1:p.Thr450Ile
XR_941601.1:n.2900C>T
XR_941602.1:n.2900C>T
XR_941603.1:n.2900C>T
XR_941604.1:n.2900C>T
NM_001330578.1:c.2447C>T	NP_001317507.1:p.Thr816Ile
NM_001330579.1:c.2429C>T	NP_001317508.1:p.Thr810Ile
XM_005266424.4:c.2585C>T	XP_005266481.1:p.Thr862Ile
XM_005266430.4:c.2681C>T	XP_005266487.1:p.Thr894Ile
XM_005266431.4:c.2645C>T	XP_005266488.1:p.Thr882Ile
XM_006719837.3:c.2585C>T	XP_006719900.1:p.Thr862Ile
XM_011535117.3:c.2585C>T	XP_011533419.1:p.Thr862Ile
XM_017020627.1:c.2585C>T	XP_016876116.1:p.Thr862Ile
NM_000053.4:c.2681C>T MANE Select	NP_000044.2:p.Thr894Ile
NM_001005918.3:c.2195C>T	NP_001005918.1:p.Thr732Ile
NM_001330579.2:c.2429C>T	NP_001317508.1:p.Thr810Ile
NM_001243182.2:c.2348C>T	NP_001230111.1:p.Thr783Ile
NM_001330578.2:c.2447C>T	NP_001317507.1:p.Thr816Ile