Canonical Allele Identifier: CA388026515

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515306C>A (hg19) ; chr13:g.51941170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941170C>A , CM000675.2:g.51941170C>A	GRCh38
NC_000013.10:g.52515306C>A , CM000675.1:g.52515306C>A	GRCh37
NC_000013.9:g.51413307C>A	NCBI36
NG_008806.1:g.75325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1117G>T	ENSP00000489512.2:n.*1117G>T
ENST00000673864.2:c.*2211G>T	ENSP00000501045.2:n.*2211G>T
ENST00000674147.2:c.2846G>T	ENSP00000500964.2:p.Arg949Leu
ENST00000242839.10:c.3467G>T MANE Select	ENSP00000242839.5:p.Arg1156Leu
ENST00000344297.9:c.2846G>T	ENSP00000342559.5:p.Arg949Leu
ENST00000400366.6:c.3134G>T	ENSP00000383217.3:p.Arg1045Leu
ENST00000448424.7:c.3215G>T	ENSP00000416738.3:p.Arg1072Leu
ENST00000673772.1:c.3233G>T	ENSP00000501168.1:p.Arg1078Leu
ENST00000673867.1:n.3606G>T
ENST00000674126.1:n.3830G>T
ENST00000674147.1:c.2402G>T	ENSP00000500964.1:p.Arg801Leu
ENST00000242839.8:c.3467G>T	ENSP00000242839.4:p.Arg1156Leu
ENST00000344297.8:c.2846G>T	ENSP00000342559.5:p.Arg949Leu
ENST00000400366.5:c.3134G>T	ENSP00000383217.3:p.Arg1045Leu
ENST00000400370.8:c.2177G>T	ENSP00000383221.3:p.Arg726Leu
ENST00000418097.7:c.3272G>T	ENSP00000393343.2:p.Arg1091Leu
ENST00000448424.6:c.3233G>T	ENSP00000416738.2:p.Arg1078Leu
ENST00000634296.1:c.1245G>T
ENST00000634308.1:c.*568G>T	ENSP00000489234.1:n.*568G>T
ENST00000634620.1:n.4211G>T
ENST00000634810.1:n.2812G>T
ENST00000634844.1:c.3323G>T	ENSP00000489398.1:p.Arg1108Leu
NM_000053.3:c.3467G>T	NP_000044.2:p.Arg1156Leu
NM_001005918.2:c.2846G>T	NP_001005918.1:p.Arg949Leu
NM_001243182.1:c.3134G>T	NP_001230111.1:p.Arg1045Leu
XM_005266423.2:c.3371G>T	XP_005266480.1:p.Arg1124Leu
XM_005266424.3:c.3371G>T	XP_005266481.1:p.Arg1124Leu
XM_005266427.2:c.3233G>T	XP_005266484.1:p.Arg1078Leu
XM_005266428.1:c.3215G>T	XP_005266485.1:p.Arg1072Leu
XM_005266430.3:c.3467G>T	XP_005266487.1:p.Arg1156Leu
XM_005266431.2:c.3431G>T	XP_005266488.1:p.Arg1144Leu
XM_005266432.2:c.2981G>T	XP_005266489.1:p.Arg994Leu
XM_006719837.2:c.3371G>T	XP_006719900.1:p.Arg1124Leu
XM_006719838.1:c.1283G>T	XP_006719901.1:p.Arg428Leu
XM_006719839.1:c.1100G>T	XP_006719902.1:p.Arg367Leu
XM_011535117.1:c.3371G>T	XP_011533419.1:p.Arg1124Leu
XM_011535118.1:c.3332G>T	XP_011533420.1:p.Arg1111Leu
XM_011535119.1:c.3284G>T	XP_011533421.1:p.Arg1095Leu
XM_011535120.1:c.3053G>T	XP_011533422.1:p.Arg1018Leu
XM_011535121.1:c.2954G>T	XP_011533423.1:p.Arg985Leu
XM_011535122.1:c.2135G>T	XP_011533424.1:p.Arg712Leu
XR_941601.1:n.3686G>T
XR_941602.1:n.3686G>T
XR_941603.1:n.3686G>T
XR_941604.1:n.3686G>T
NM_001330578.1:c.3233G>T	NP_001317507.1:p.Arg1078Leu
NM_001330579.1:c.3215G>T	NP_001317508.1:p.Arg1072Leu
XM_005266424.4:c.3371G>T	XP_005266481.1:p.Arg1124Leu
XM_005266430.4:c.3467G>T	XP_005266487.1:p.Arg1156Leu
XM_005266431.4:c.3431G>T	XP_005266488.1:p.Arg1144Leu
XM_006719837.3:c.3371G>T	XP_006719900.1:p.Arg1124Leu
XM_011535117.3:c.3371G>T	XP_011533419.1:p.Arg1124Leu
XM_017020627.1:c.3371G>T	XP_016876116.1:p.Arg1124Leu
NM_000053.4:c.3467G>T MANE Select	NP_000044.2:p.Arg1156Leu
NM_001005918.3:c.2846G>T	NP_001005918.1:p.Arg949Leu
NM_001330579.2:c.3215G>T	NP_001317508.1:p.Arg1072Leu
NM_001243182.2:c.3134G>T	NP_001230111.1:p.Arg1045Leu
NM_001330578.2:c.3233G>T	NP_001317507.1:p.Arg1078Leu