Canonical Allele Identifier: CA388026099

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515249T>A (hg19) ; chr13:g.51941113T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941113T>A , CM000675.2:g.51941113T>A	GRCh38
NC_000013.10:g.52515249T>A , CM000675.1:g.52515249T>A	GRCh37
NC_000013.9:g.51413250T>A	NCBI36
NG_008806.1:g.75382A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1174A>T	ENSP00000489512.2:n.*1174A>T
ENST00000673864.2:c.*2268A>T	ENSP00000501045.2:n.*2268A>T
ENST00000674147.2:c.2903A>T	ENSP00000500964.2:p.Lys968Ile
ENST00000242839.10:c.3524A>T MANE Select	ENSP00000242839.5:p.Lys1175Ile
ENST00000344297.9:c.2903A>T	ENSP00000342559.5:p.Lys968Ile
ENST00000400366.6:c.3191A>T	ENSP00000383217.3:p.Lys1064Ile
ENST00000448424.7:c.3272A>T	ENSP00000416738.3:p.Lys1091Ile
ENST00000673772.1:c.3290A>T	ENSP00000501168.1:p.Lys1097Ile
ENST00000673867.1:n.3663A>T
ENST00000674126.1:n.3887A>T
ENST00000674147.1:c.2459A>T	ENSP00000500964.1:p.Lys820Ile
ENST00000242839.8:c.3524A>T	ENSP00000242839.4:p.Lys1175Ile
ENST00000344297.8:c.2903A>T	ENSP00000342559.5:p.Lys968Ile
ENST00000400366.5:c.3191A>T	ENSP00000383217.3:p.Lys1064Ile
ENST00000400370.8:c.2234A>T	ENSP00000383221.3:p.Lys745Ile
ENST00000418097.7:c.3329A>T	ENSP00000393343.2:p.Lys1110Ile
ENST00000448424.6:c.3290A>T	ENSP00000416738.2:p.Lys1097Ile
ENST00000634296.1:c.1302A>T
ENST00000634308.1:c.*625A>T	ENSP00000489234.1:n.*625A>T
ENST00000634620.1:n.4268A>T
ENST00000634810.1:n.2869A>T
ENST00000634844.1:c.3380A>T	ENSP00000489398.1:p.Lys1127Ile
NM_000053.3:c.3524A>T	NP_000044.2:p.Lys1175Ile
NM_001005918.2:c.2903A>T	NP_001005918.1:p.Lys968Ile
NM_001243182.1:c.3191A>T	NP_001230111.1:p.Lys1064Ile
XM_005266423.2:c.3428A>T	XP_005266480.1:p.Lys1143Ile
XM_005266424.3:c.3428A>T	XP_005266481.1:p.Lys1143Ile
XM_005266427.2:c.3290A>T	XP_005266484.1:p.Lys1097Ile
XM_005266428.1:c.3272A>T	XP_005266485.1:p.Lys1091Ile
XM_005266430.3:c.3524A>T	XP_005266487.1:p.Lys1175Ile
XM_005266431.2:c.3488A>T	XP_005266488.1:p.Lys1163Ile
XM_005266432.2:c.3038A>T	XP_005266489.1:p.Lys1013Ile
XM_006719837.2:c.3428A>T	XP_006719900.1:p.Lys1143Ile
XM_006719838.1:c.1340A>T	XP_006719901.1:p.Lys447Ile
XM_006719839.1:c.1157A>T	XP_006719902.1:p.Lys386Ile
XM_011535117.1:c.3428A>T	XP_011533419.1:p.Lys1143Ile
XM_011535118.1:c.3389A>T	XP_011533420.1:p.Lys1130Ile
XM_011535119.1:c.3341A>T	XP_011533421.1:p.Lys1114Ile
XM_011535120.1:c.3110A>T	XP_011533422.1:p.Lys1037Ile
XM_011535121.1:c.3011A>T	XP_011533423.1:p.Lys1004Ile
XM_011535122.1:c.2192A>T	XP_011533424.1:p.Lys731Ile
XR_941601.1:n.3743A>T
XR_941602.1:n.3743A>T
XR_941603.1:n.3743A>T
XR_941604.1:n.3743A>T
NM_001330578.1:c.3290A>T	NP_001317507.1:p.Lys1097Ile
NM_001330579.1:c.3272A>T	NP_001317508.1:p.Lys1091Ile
XM_005266424.4:c.3428A>T	XP_005266481.1:p.Lys1143Ile
XM_005266430.4:c.3524A>T	XP_005266487.1:p.Lys1175Ile
XM_005266431.4:c.3488A>T	XP_005266488.1:p.Lys1163Ile
XM_006719837.3:c.3428A>T	XP_006719900.1:p.Lys1143Ile
XM_011535117.3:c.3428A>T	XP_011533419.1:p.Lys1143Ile
XM_017020627.1:c.3428A>T	XP_016876116.1:p.Lys1143Ile
NM_000053.4:c.3524A>T MANE Select	NP_000044.2:p.Lys1175Ile
NM_001005918.3:c.2903A>T	NP_001005918.1:p.Lys968Ile
NM_001330579.2:c.3272A>T	NP_001317508.1:p.Lys1091Ile
NM_001243182.2:c.3191A>T	NP_001230111.1:p.Lys1064Ile
NM_001330578.2:c.3290A>T	NP_001317507.1:p.Lys1097Ile