Canonical Allele Identifier: CA388032402

Gene: ATP7B

Linked Data

• dbSNP Id: rs201061621
• gnomAD v3: 13-51946423-G-T
• gnomAD v4: 13-51946423-G-T
• MyVariant Identifiers: chr13:g.52520559G>T (hg19) ; chr13:g.51946423G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*754C>A	ENSP00000489512.2:n.*754C>A
ENST00000673864.2:c.*1665C>A	ENSP00000501045.2:n.*1665C>A
ENST00000674147.2:c.2300C>A	ENSP00000500964.2:p.Thr767Lys
ENST00000242839.10:c.2921C>A MANE Select	ENSP00000242839.5:p.Thr974Lys
ENST00000344297.9:c.2300C>A	ENSP00000342559.5:p.Thr767Lys
ENST00000400366.6:c.2588C>A	ENSP00000383217.3:p.Thr863Lys
ENST00000448424.7:c.2669C>A	ENSP00000416738.3:p.Thr890Lys
ENST00000673772.1:c.2687C>A	ENSP00000501168.1:p.Thr896Lys
ENST00000673867.1:n.1068C>A
ENST00000674126.1:n.3284C>A
ENST00000674147.1:c.1856C>A	ENSP00000500964.1:p.Thr619Lys
ENST00000242839.8:c.2921C>A	ENSP00000242839.4:p.Thr974Lys
ENST00000344297.8:c.2300C>A	ENSP00000342559.5:p.Thr767Lys
ENST00000400366.5:c.2588C>A	ENSP00000383217.3:p.Thr863Lys
ENST00000400370.8:c.1631C>A	ENSP00000383221.3:p.Thr544Lys
ENST00000418097.7:c.2866-2132C>A	ENSP00000393343.2:n.2866-2132C>A
ENST00000448424.6:c.2687C>A	ENSP00000416738.2:p.Thr896Lys
ENST00000466629.1:n.141C>A
ENST00000634296.1:c.882C>A
ENST00000634308.1:c.*22C>A	ENSP00000489234.1:n.*22C>A
ENST00000634620.1:n.3665C>A
ENST00000634810.1:n.2266C>A
ENST00000634844.1:c.2777C>A	ENSP00000489398.1:p.Thr926Lys
ENST00000635406.1:n.267C>A
NM_000053.3:c.2921C>A	NP_000044.2:p.Thr974Lys
NM_001005918.2:c.2300C>A	NP_001005918.1:p.Thr767Lys
NM_001243182.1:c.2588C>A	NP_001230111.1:p.Thr863Lys
XM_005266423.2:c.2825C>A	XP_005266480.1:p.Thr942Lys
XM_005266424.3:c.2825C>A	XP_005266481.1:p.Thr942Lys
XM_005266427.2:c.2687C>A	XP_005266484.1:p.Thr896Lys
XM_005266428.1:c.2669C>A	XP_005266485.1:p.Thr890Lys
XM_005266430.3:c.2921C>A	XP_005266487.1:p.Thr974Lys
XM_005266431.2:c.2885C>A	XP_005266488.1:p.Thr962Lys
XM_005266432.2:c.2435C>A	XP_005266489.1:p.Thr812Lys
XM_006719837.2:c.2825C>A	XP_006719900.1:p.Thr942Lys
XM_006719838.1:c.737C>A	XP_006719901.1:p.Thr246Lys
XM_006719839.1:c.737C>A	XP_006719902.1:p.Thr246Lys
XM_011535117.1:c.2825C>A	XP_011533419.1:p.Thr942Lys
XM_011535118.1:c.2786C>A	XP_011533420.1:p.Thr929Lys
XM_011535119.1:c.2921C>A	XP_011533421.1:p.Thr974Lys
XM_011535120.1:c.2507C>A	XP_011533422.1:p.Thr836Lys
XM_011535121.1:c.2730+3584C>A	XP_011533423.1:n.2730+3584C>A
XM_011535122.1:c.1589C>A	XP_011533424.1:p.Thr530Lys
XR_941601.1:n.3140C>A
XR_941602.1:n.3140C>A
XR_941603.1:n.3140C>A
XR_941604.1:n.3140C>A
NM_001330578.1:c.2687C>A	NP_001317507.1:p.Thr896Lys
NM_001330579.1:c.2669C>A	NP_001317508.1:p.Thr890Lys
XM_005266424.4:c.2825C>A	XP_005266481.1:p.Thr942Lys
XM_005266430.4:c.2921C>A	XP_005266487.1:p.Thr974Lys
XM_005266431.4:c.2885C>A	XP_005266488.1:p.Thr962Lys
XM_006719837.3:c.2825C>A	XP_006719900.1:p.Thr942Lys
XM_011535117.3:c.2825C>A	XP_011533419.1:p.Thr942Lys
XM_017020627.1:c.2825C>A	XP_016876116.1:p.Thr942Lys
NM_000053.4:c.2921C>A MANE Select	NP_000044.2:p.Thr974Lys
NM_001005918.3:c.2300C>A	NP_001005918.1:p.Thr767Lys
NM_001330579.2:c.2669C>A	NP_001317508.1:p.Thr890Lys
NM_001243182.2:c.2588C>A	NP_001230111.1:p.Thr863Lys
NM_001330578.2:c.2687C>A	NP_001317507.1:p.Thr896Lys