Canonical Allele Identifier: CA6988862

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 289465
• ClinVar RCV Id: RCV000273499 ; RCV000665879 ; RCV001553563 ; RCV002518085
• dbSNP Id: rs201061621
• ExAC: 13:52520559 G / A
• gnomAD v2: 13-52520559-G-A
• gnomAD v3: 13-51946423-G-A
• gnomAD v4: 13-51946423-G-A
• MyVariant Identifiers: chr13:g.52520559G>A (hg19) ; chr13:g.51946423G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946423G>A , CM000675.2:g.51946423G>A	GRCh38
NC_000013.10:g.52520559G>A , CM000675.1:g.52520559G>A	GRCh37
NC_000013.9:g.51418560G>A	NCBI36
NG_008806.1:g.70072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*754C>T	ENSP00000489512.2:n.*754C>T
ENST00000673864.2:c.*1665C>T	ENSP00000501045.2:n.*1665C>T
ENST00000674147.2:c.2300C>T	ENSP00000500964.2:p.Thr767Met
ENST00000242839.10:c.2921C>T MANE Select	ENSP00000242839.5:p.Thr974Met
ENST00000344297.9:c.2300C>T	ENSP00000342559.5:p.Thr767Met
ENST00000400366.6:c.2588C>T	ENSP00000383217.3:p.Thr863Met
ENST00000448424.7:c.2669C>T	ENSP00000416738.3:p.Thr890Met
ENST00000673772.1:c.2687C>T	ENSP00000501168.1:p.Thr896Met
ENST00000673867.1:n.1068C>T
ENST00000674126.1:n.3284C>T
ENST00000674147.1:c.1856C>T	ENSP00000500964.1:p.Thr619Met
ENST00000242839.8:c.2921C>T	ENSP00000242839.4:p.Thr974Met
ENST00000344297.8:c.2300C>T	ENSP00000342559.5:p.Thr767Met
ENST00000400366.5:c.2588C>T	ENSP00000383217.3:p.Thr863Met
ENST00000400370.8:c.1631C>T	ENSP00000383221.3:p.Thr544Met
ENST00000418097.7:c.2866-2132C>T	ENSP00000393343.2:n.2866-2132C>T
ENST00000448424.6:c.2687C>T	ENSP00000416738.2:p.Thr896Met
ENST00000466629.1:n.141C>T
ENST00000634296.1:c.882C>T
ENST00000634308.1:c.*22C>T	ENSP00000489234.1:n.*22C>T
ENST00000634620.1:n.3665C>T
ENST00000634810.1:n.2266C>T
ENST00000634844.1:c.2777C>T	ENSP00000489398.1:p.Thr926Met
ENST00000635406.1:n.267C>T
NM_000053.3:c.2921C>T	NP_000044.2:p.Thr974Met
NM_001005918.2:c.2300C>T	NP_001005918.1:p.Thr767Met
NM_001243182.1:c.2588C>T	NP_001230111.1:p.Thr863Met
XM_005266423.2:c.2825C>T	XP_005266480.1:p.Thr942Met
XM_005266424.3:c.2825C>T	XP_005266481.1:p.Thr942Met
XM_005266427.2:c.2687C>T	XP_005266484.1:p.Thr896Met
XM_005266428.1:c.2669C>T	XP_005266485.1:p.Thr890Met
XM_005266430.3:c.2921C>T	XP_005266487.1:p.Thr974Met
XM_005266431.2:c.2885C>T	XP_005266488.1:p.Thr962Met
XM_005266432.2:c.2435C>T	XP_005266489.1:p.Thr812Met
XM_006719837.2:c.2825C>T	XP_006719900.1:p.Thr942Met
XM_006719838.1:c.737C>T	XP_006719901.1:p.Thr246Met
XM_006719839.1:c.737C>T	XP_006719902.1:p.Thr246Met
XM_011535117.1:c.2825C>T	XP_011533419.1:p.Thr942Met
XM_011535118.1:c.2786C>T	XP_011533420.1:p.Thr929Met
XM_011535119.1:c.2921C>T	XP_011533421.1:p.Thr974Met
XM_011535120.1:c.2507C>T	XP_011533422.1:p.Thr836Met
XM_011535121.1:c.2730+3584C>T	XP_011533423.1:n.2730+3584C>T
XM_011535122.1:c.1589C>T	XP_011533424.1:p.Thr530Met
XR_941601.1:n.3140C>T
XR_941602.1:n.3140C>T
XR_941603.1:n.3140C>T
XR_941604.1:n.3140C>T
NM_001330578.1:c.2687C>T	NP_001317507.1:p.Thr896Met
NM_001330579.1:c.2669C>T	NP_001317508.1:p.Thr890Met
XM_005266424.4:c.2825C>T	XP_005266481.1:p.Thr942Met
XM_005266430.4:c.2921C>T	XP_005266487.1:p.Thr974Met
XM_005266431.4:c.2885C>T	XP_005266488.1:p.Thr962Met
XM_006719837.3:c.2825C>T	XP_006719900.1:p.Thr942Met
XM_011535117.3:c.2825C>T	XP_011533419.1:p.Thr942Met
XM_017020627.1:c.2825C>T	XP_016876116.1:p.Thr942Met
NM_000053.4:c.2921C>T MANE Select	NP_000044.2:p.Thr974Met
NM_001005918.3:c.2300C>T	NP_001005918.1:p.Thr767Met
NM_001330579.2:c.2669C>T	NP_001317508.1:p.Thr890Met
NM_001243182.2:c.2588C>T	NP_001230111.1:p.Thr863Met
NM_001330578.2:c.2687C>T	NP_001317507.1:p.Thr896Met