Canonical Allele Identifier: CA388024264

Gene: ATP7B

Linked Data

• COSMIC: COSM1367422
• MyVariant Identifiers: chr13:g.52513270C>T (hg19) ; chr13:g.51939134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939134C>T , CM000675.2:g.51939134C>T	GRCh38
NC_000013.10:g.52513270C>T , CM000675.1:g.52513270C>T	GRCh37
NC_000013.9:g.51411271C>T	NCBI36
NG_008806.1:g.77361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1266G>A	ENSP00000489512.2:n.*1266G>A
ENST00000673864.2:c.*2360G>A	ENSP00000501045.2:n.*2360G>A
ENST00000674147.2:c.2995G>A	ENSP00000500964.2:p.Val999Met
ENST00000242839.10:c.3616G>A MANE Select	ENSP00000242839.5:p.Val1206Met
ENST00000344297.9:c.2995G>A	ENSP00000342559.5:p.Val999Met
ENST00000400366.6:c.3283G>A	ENSP00000383217.3:p.Val1095Met
ENST00000448424.7:c.3364G>A	ENSP00000416738.3:p.Val1122Met
ENST00000673696.1:n.857G>A
ENST00000673772.1:c.3382G>A	ENSP00000501168.1:p.Val1128Met
ENST00000673867.1:n.3755G>A
ENST00000673923.1:n.482G>A
ENST00000674147.1:c.2551G>A	ENSP00000500964.1:p.Val851Met
ENST00000242839.8:c.3616G>A	ENSP00000242839.4:p.Val1206Met
ENST00000344297.8:c.2995G>A	ENSP00000342559.5:p.Val999Met
ENST00000400366.5:c.3283G>A	ENSP00000383217.3:p.Val1095Met
ENST00000400370.8:c.2326G>A	ENSP00000383221.3:p.Val776Met
ENST00000418097.7:c.3421G>A	ENSP00000393343.2:p.Val1141Met
ENST00000448424.6:c.3382G>A	ENSP00000416738.2:p.Val1128Met
ENST00000634296.1:c.1394G>A
ENST00000634308.1:c.*717G>A	ENSP00000489234.1:n.*717G>A
ENST00000634620.1:n.4360G>A
ENST00000634810.1:n.2961G>A
ENST00000634844.1:c.3472G>A	ENSP00000489398.1:p.Val1158Met
NM_000053.3:c.3616G>A	NP_000044.2:p.Val1206Met
NM_001005918.2:c.2995G>A	NP_001005918.1:p.Val999Met
NM_001243182.1:c.3283G>A	NP_001230111.1:p.Val1095Met
XM_005266423.2:c.3520G>A	XP_005266480.1:p.Val1174Met
XM_005266424.3:c.3520G>A	XP_005266481.1:p.Val1174Met
XM_005266427.2:c.3382G>A	XP_005266484.1:p.Val1128Met
XM_005266428.1:c.3364G>A	XP_005266485.1:p.Val1122Met
XM_005266430.3:c.3616G>A	XP_005266487.1:p.Val1206Met
XM_005266431.2:c.3580G>A	XP_005266488.1:p.Val1194Met
XM_005266432.2:c.3130G>A	XP_005266489.1:p.Val1044Met
XM_006719837.2:c.3520G>A	XP_006719900.1:p.Val1174Met
XM_006719838.1:c.1432G>A	XP_006719901.1:p.Val478Met
XM_006719839.1:c.1249G>A	XP_006719902.1:p.Val417Met
XM_011535117.1:c.3520G>A	XP_011533419.1:p.Val1174Met
XM_011535118.1:c.3481G>A	XP_011533420.1:p.Val1161Met
XM_011535119.1:c.3433G>A	XP_011533421.1:p.Val1145Met
XM_011535120.1:c.3202G>A	XP_011533422.1:p.Val1068Met
XM_011535121.1:c.3103G>A	XP_011533423.1:p.Val1035Met
XM_011535122.1:c.2284G>A	XP_011533424.1:p.Val762Met
XR_941601.1:n.3835G>A
XR_941602.1:n.3835G>A
XR_941603.1:n.3835G>A
XR_941604.1:n.3835G>A
NM_001330578.1:c.3382G>A	NP_001317507.1:p.Val1128Met
NM_001330579.1:c.3364G>A	NP_001317508.1:p.Val1122Met
XM_005266424.4:c.3520G>A	XP_005266481.1:p.Val1174Met
XM_005266430.4:c.3616G>A	XP_005266487.1:p.Val1206Met
XM_005266431.4:c.3580G>A	XP_005266488.1:p.Val1194Met
XM_006719837.3:c.3520G>A	XP_006719900.1:p.Val1174Met
XM_011535117.3:c.3520G>A	XP_011533419.1:p.Val1174Met
XM_017020627.1:c.3520G>A	XP_016876116.1:p.Val1174Met
NM_000053.4:c.3616G>A MANE Select	NP_000044.2:p.Val1206Met
NM_001005918.3:c.2995G>A	NP_001005918.1:p.Val999Met
NM_001330579.2:c.3364G>A	NP_001317508.1:p.Val1122Met
NM_001243182.2:c.3283G>A	NP_001230111.1:p.Val1095Met
NM_001330578.2:c.3382G>A	NP_001317507.1:p.Val1128Met