Canonical Allele Identifier: CA388021095

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511480A>T (hg19) ; chr13:g.51937344A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937344A>T , CM000675.2:g.51937344A>T	GRCh38
NC_000013.10:g.52511480A>T , CM000675.1:g.52511480A>T	GRCh37
NC_000013.9:g.51409481A>T	NCBI36
NG_008806.1:g.79151T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1603T>A	ENSP00000489512.2:n.*1603T>A
ENST00000673864.2:c.*2697T>A	ENSP00000501045.2:n.*2697T>A
ENST00000674147.2:c.3332T>A	ENSP00000500964.2:p.Val1111Asp
ENST00000242839.10:c.3953T>A MANE Select	ENSP00000242839.5:p.Val1318Asp
ENST00000344297.9:c.3332T>A	ENSP00000342559.5:p.Val1111Asp
ENST00000400366.6:c.3620T>A	ENSP00000383217.3:p.Val1207Asp
ENST00000448424.7:c.3701T>A	ENSP00000416738.3:p.Val1234Asp
ENST00000673696.1:n.1276T>A
ENST00000673772.1:c.3719T>A	ENSP00000501168.1:p.Val1240Asp
ENST00000673867.1:n.4092T>A
ENST00000673923.1:n.819T>A
ENST00000674147.1:c.2888T>A	ENSP00000500964.1:p.Val963Asp
ENST00000242839.8:c.3953T>A	ENSP00000242839.4:p.Val1318Asp
ENST00000344297.8:c.3332T>A	ENSP00000342559.5:p.Val1111Asp
ENST00000400366.5:c.3620T>A	ENSP00000383217.3:p.Val1207Asp
ENST00000400370.8:c.2663T>A	ENSP00000383221.3:p.Val888Asp
ENST00000418097.7:c.3758T>A	ENSP00000393343.2:p.Val1253Asp
ENST00000448424.6:c.3719T>A	ENSP00000416738.2:p.Val1240Asp
ENST00000634296.1:c.1731T>A
ENST00000634308.1:c.*1054T>A	ENSP00000489234.1:n.*1054T>A
ENST00000634620.1:n.4697T>A
ENST00000634810.1:n.3298T>A
ENST00000634844.1:c.3809T>A	ENSP00000489398.1:p.Val1270Asp
NM_000053.3:c.3953T>A	NP_000044.2:p.Val1318Asp
NM_001005918.2:c.3332T>A	NP_001005918.1:p.Val1111Asp
NM_001243182.1:c.3620T>A	NP_001230111.1:p.Val1207Asp
XM_005266423.2:c.3857T>A	XP_005266480.1:p.Val1286Asp
XM_005266424.3:c.3857T>A	XP_005266481.1:p.Val1286Asp
XM_005266427.2:c.3719T>A	XP_005266484.1:p.Val1240Asp
XM_005266428.1:c.3701T>A	XP_005266485.1:p.Val1234Asp
XM_005266430.3:c.3953T>A	XP_005266487.1:p.Val1318Asp
XM_005266431.2:c.3917T>A	XP_005266488.1:p.Val1306Asp
XM_005266432.2:c.3467T>A	XP_005266489.1:p.Val1156Asp
XM_006719837.2:c.3857T>A	XP_006719900.1:p.Val1286Asp
XM_006719838.1:c.1769T>A	XP_006719901.1:p.Val590Asp
XM_006719839.1:c.1586T>A	XP_006719902.1:p.Val529Asp
XM_011535117.1:c.3857T>A	XP_011533419.1:p.Val1286Asp
XM_011535118.1:c.3818T>A	XP_011533420.1:p.Val1273Asp
XM_011535119.1:c.3770T>A	XP_011533421.1:p.Val1257Asp
XM_011535120.1:c.3539T>A	XP_011533422.1:p.Val1180Asp
XM_011535121.1:c.3440T>A	XP_011533423.1:p.Val1147Asp
XM_011535122.1:c.2621T>A	XP_011533424.1:p.Val874Asp
XR_941601.1:n.4172T>A
XR_941602.1:n.4172T>A
XR_941603.1:n.4172T>A
XR_941604.1:n.4172T>A
NM_001330578.1:c.3719T>A	NP_001317507.1:p.Val1240Asp
NM_001330579.1:c.3701T>A	NP_001317508.1:p.Val1234Asp
XM_005266424.4:c.3857T>A	XP_005266481.1:p.Val1286Asp
XM_005266430.4:c.3953T>A	XP_005266487.1:p.Val1318Asp
XM_005266431.4:c.3917T>A	XP_005266488.1:p.Val1306Asp
XM_006719837.3:c.3857T>A	XP_006719900.1:p.Val1286Asp
XM_011535117.3:c.3857T>A	XP_011533419.1:p.Val1286Asp
XM_017020627.1:c.3857T>A	XP_016876116.1:p.Val1286Asp
NM_000053.4:c.3953T>A MANE Select	NP_000044.2:p.Val1318Asp
NM_001005918.3:c.3332T>A	NP_001005918.1:p.Val1111Asp
NM_001330579.2:c.3701T>A	NP_001317508.1:p.Val1234Asp
NM_001243182.2:c.3620T>A	NP_001230111.1:p.Val1207Asp
NM_001330578.2:c.3719T>A	NP_001317507.1:p.Val1240Asp