Canonical Allele Identifier: CA388030705

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1162227
• ClinVar RCV Id: RCV001507001
• dbSNP Id: rs1555286633
• MyVariant Identifiers: chr13:g.52518414A>T (hg19) ; chr13:g.51944278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944278A>T , CM000675.2:g.51944278A>T	GRCh38
NC_000013.10:g.52518414A>T , CM000675.1:g.52518414A>T	GRCh37
NC_000013.9:g.51416415A>T	NCBI36
NG_008806.1:g.72217T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1724T>A	ENSP00000489512.2:n.*894-1724T>A
ENST00000673864.2:c.*1818T>A	ENSP00000501045.2:n.*1818T>A
ENST00000674147.2:c.2453T>A	ENSP00000500964.2:p.Met818Lys
ENST00000242839.10:c.3074T>A MANE Select	ENSP00000242839.5:p.Met1025Lys
ENST00000344297.9:c.2453T>A	ENSP00000342559.5:p.Met818Lys
ENST00000400366.6:c.2741T>A	ENSP00000383217.3:p.Met914Lys
ENST00000448424.7:c.2822T>A	ENSP00000416738.3:p.Met941Lys
ENST00000673772.1:c.2840T>A	ENSP00000501168.1:p.Met947Lys
ENST00000673867.1:n.3213T>A
ENST00000674126.1:n.3437T>A
ENST00000674147.1:c.2009T>A	ENSP00000500964.1:p.Met670Lys
ENST00000242839.8:c.3074T>A	ENSP00000242839.4:p.Met1025Lys
ENST00000344297.8:c.2453T>A	ENSP00000342559.5:p.Met818Lys
ENST00000400366.5:c.2741T>A	ENSP00000383217.3:p.Met914Lys
ENST00000400370.8:c.1784T>A	ENSP00000383221.3:p.Met595Lys
ENST00000418097.7:c.2879T>A	ENSP00000393343.2:p.Met960Lys
ENST00000448424.6:c.2840T>A	ENSP00000416738.2:p.Met947Lys
ENST00000466629.1:n.294T>A
ENST00000634296.1:c.1022-1724T>A
ENST00000634308.1:c.*175T>A	ENSP00000489234.1:n.*175T>A
ENST00000634620.1:n.3818T>A
ENST00000634810.1:n.2419T>A
ENST00000634844.1:c.2930T>A	ENSP00000489398.1:p.Met977Lys
ENST00000635406.1:n.420T>A
NM_000053.3:c.3074T>A	NP_000044.2:p.Met1025Lys
NM_001005918.2:c.2453T>A	NP_001005918.1:p.Met818Lys
NM_001243182.1:c.2741T>A	NP_001230111.1:p.Met914Lys
XM_005266423.2:c.2978T>A	XP_005266480.1:p.Met993Lys
XM_005266424.3:c.2978T>A	XP_005266481.1:p.Met993Lys
XM_005266427.2:c.2840T>A	XP_005266484.1:p.Met947Lys
XM_005266428.1:c.2822T>A	XP_005266485.1:p.Met941Lys
XM_005266430.3:c.3074T>A	XP_005266487.1:p.Met1025Lys
XM_005266431.2:c.3038T>A	XP_005266488.1:p.Met1013Lys
XM_005266432.2:c.2588T>A	XP_005266489.1:p.Met863Lys
XM_006719837.2:c.2978T>A	XP_006719900.1:p.Met993Lys
XM_006719838.1:c.890T>A	XP_006719901.1:p.Met297Lys
XM_006719839.1:c.877-1724T>A	XP_006719902.1:n.877-1724T>A
XM_011535117.1:c.2978T>A	XP_011533419.1:p.Met993Lys
XM_011535118.1:c.2939T>A	XP_011533420.1:p.Met980Lys
XM_011535119.1:c.3061-1724T>A	XP_011533421.1:n.3061-1724T>A
XM_011535120.1:c.2660T>A	XP_011533422.1:p.Met887Lys
XM_011535121.1:c.2731-1724T>A	XP_011533423.1:n.2731-1724T>A
XM_011535122.1:c.1742T>A	XP_011533424.1:p.Met581Lys
XR_941601.1:n.3293T>A
XR_941602.1:n.3293T>A
XR_941603.1:n.3293T>A
XR_941604.1:n.3293T>A
NM_001330578.1:c.2840T>A	NP_001317507.1:p.Met947Lys
NM_001330579.1:c.2822T>A	NP_001317508.1:p.Met941Lys
XM_005266424.4:c.2978T>A	XP_005266481.1:p.Met993Lys
XM_005266430.4:c.3074T>A	XP_005266487.1:p.Met1025Lys
XM_005266431.4:c.3038T>A	XP_005266488.1:p.Met1013Lys
XM_006719837.3:c.2978T>A	XP_006719900.1:p.Met993Lys
XM_011535117.3:c.2978T>A	XP_011533419.1:p.Met993Lys
XM_017020627.1:c.2978T>A	XP_016876116.1:p.Met993Lys
NM_000053.4:c.3074T>A MANE Select	NP_000044.2:p.Met1025Lys
NM_001005918.3:c.2453T>A	NP_001005918.1:p.Met818Lys
NM_001330579.2:c.2822T>A	NP_001317508.1:p.Met941Lys
NM_001243182.2:c.2741T>A	NP_001230111.1:p.Met914Lys
NM_001330578.2:c.2840T>A	NP_001317507.1:p.Met947Lys