Canonical Allele Identifier: CA388021093

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937344-A-G
• MyVariant Identifiers: chr13:g.52511480A>G (hg19) ; chr13:g.51937344A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1603T>C	ENSP00000489512.2:n.*1603T>C
ENST00000673864.2:c.*2697T>C	ENSP00000501045.2:n.*2697T>C
ENST00000674147.2:c.3332T>C	ENSP00000500964.2:p.Val1111Ala
ENST00000242839.10:c.3953T>C MANE Select	ENSP00000242839.5:p.Val1318Ala
ENST00000344297.9:c.3332T>C	ENSP00000342559.5:p.Val1111Ala
ENST00000400366.6:c.3620T>C	ENSP00000383217.3:p.Val1207Ala
ENST00000448424.7:c.3701T>C	ENSP00000416738.3:p.Val1234Ala
ENST00000673696.1:n.1276T>C
ENST00000673772.1:c.3719T>C	ENSP00000501168.1:p.Val1240Ala
ENST00000673867.1:n.4092T>C
ENST00000673923.1:n.819T>C
ENST00000674147.1:c.2888T>C	ENSP00000500964.1:p.Val963Ala
ENST00000242839.8:c.3953T>C	ENSP00000242839.4:p.Val1318Ala
ENST00000344297.8:c.3332T>C	ENSP00000342559.5:p.Val1111Ala
ENST00000400366.5:c.3620T>C	ENSP00000383217.3:p.Val1207Ala
ENST00000400370.8:c.2663T>C	ENSP00000383221.3:p.Val888Ala
ENST00000418097.7:c.3758T>C	ENSP00000393343.2:p.Val1253Ala
ENST00000448424.6:c.3719T>C	ENSP00000416738.2:p.Val1240Ala
ENST00000634296.1:c.1731T>C
ENST00000634308.1:c.*1054T>C	ENSP00000489234.1:n.*1054T>C
ENST00000634620.1:n.4697T>C
ENST00000634810.1:n.3298T>C
ENST00000634844.1:c.3809T>C	ENSP00000489398.1:p.Val1270Ala
NM_000053.3:c.3953T>C	NP_000044.2:p.Val1318Ala
NM_001005918.2:c.3332T>C	NP_001005918.1:p.Val1111Ala
NM_001243182.1:c.3620T>C	NP_001230111.1:p.Val1207Ala
XM_005266423.2:c.3857T>C	XP_005266480.1:p.Val1286Ala
XM_005266424.3:c.3857T>C	XP_005266481.1:p.Val1286Ala
XM_005266427.2:c.3719T>C	XP_005266484.1:p.Val1240Ala
XM_005266428.1:c.3701T>C	XP_005266485.1:p.Val1234Ala
XM_005266430.3:c.3953T>C	XP_005266487.1:p.Val1318Ala
XM_005266431.2:c.3917T>C	XP_005266488.1:p.Val1306Ala
XM_005266432.2:c.3467T>C	XP_005266489.1:p.Val1156Ala
XM_006719837.2:c.3857T>C	XP_006719900.1:p.Val1286Ala
XM_006719838.1:c.1769T>C	XP_006719901.1:p.Val590Ala
XM_006719839.1:c.1586T>C	XP_006719902.1:p.Val529Ala
XM_011535117.1:c.3857T>C	XP_011533419.1:p.Val1286Ala
XM_011535118.1:c.3818T>C	XP_011533420.1:p.Val1273Ala
XM_011535119.1:c.3770T>C	XP_011533421.1:p.Val1257Ala
XM_011535120.1:c.3539T>C	XP_011533422.1:p.Val1180Ala
XM_011535121.1:c.3440T>C	XP_011533423.1:p.Val1147Ala
XM_011535122.1:c.2621T>C	XP_011533424.1:p.Val874Ala
XR_941601.1:n.4172T>C
XR_941602.1:n.4172T>C
XR_941603.1:n.4172T>C
XR_941604.1:n.4172T>C
NM_001330578.1:c.3719T>C	NP_001317507.1:p.Val1240Ala
NM_001330579.1:c.3701T>C	NP_001317508.1:p.Val1234Ala
XM_005266424.4:c.3857T>C	XP_005266481.1:p.Val1286Ala
XM_005266430.4:c.3953T>C	XP_005266487.1:p.Val1318Ala
XM_005266431.4:c.3917T>C	XP_005266488.1:p.Val1306Ala
XM_006719837.3:c.3857T>C	XP_006719900.1:p.Val1286Ala
XM_011535117.3:c.3857T>C	XP_011533419.1:p.Val1286Ala
XM_017020627.1:c.3857T>C	XP_016876116.1:p.Val1286Ala
NM_000053.4:c.3953T>C MANE Select	NP_000044.2:p.Val1318Ala
NM_001005918.3:c.3332T>C	NP_001005918.1:p.Val1111Ala
NM_001330579.2:c.3701T>C	NP_001317508.1:p.Val1234Ala
NM_001243182.2:c.3620T>C	NP_001230111.1:p.Val1207Ala
NM_001330578.2:c.3719T>C	NP_001317507.1:p.Val1240Ala