Canonical Allele Identifier: CA388024684

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513313C>G (hg19) ; chr13:g.51939177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939177C>G , CM000675.2:g.51939177C>G	GRCh38
NC_000013.10:g.52513313C>G , CM000675.1:g.52513313C>G	GRCh37
NC_000013.9:g.51411314C>G	NCBI36
NG_008806.1:g.77318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1223G>C	ENSP00000489512.2:n.*1223G>C
ENST00000673864.2:c.*2317G>C	ENSP00000501045.2:n.*2317G>C
ENST00000674147.2:c.2952G>C	ENSP00000500964.2:p.Met984Ile
ENST00000242839.10:c.3573G>C MANE Select	ENSP00000242839.5:p.Met1191Ile
ENST00000344297.9:c.2952G>C	ENSP00000342559.5:p.Met984Ile
ENST00000400366.6:c.3240G>C	ENSP00000383217.3:p.Met1080Ile
ENST00000448424.7:c.3321G>C	ENSP00000416738.3:p.Met1107Ile
ENST00000673696.1:n.814G>C
ENST00000673772.1:c.3339G>C	ENSP00000501168.1:p.Met1113Ile
ENST00000673867.1:n.3712G>C
ENST00000673923.1:n.439G>C
ENST00000674147.1:c.2508G>C	ENSP00000500964.1:p.Met836Ile
ENST00000242839.8:c.3573G>C	ENSP00000242839.4:p.Met1191Ile
ENST00000344297.8:c.2952G>C	ENSP00000342559.5:p.Met984Ile
ENST00000400366.5:c.3240G>C	ENSP00000383217.3:p.Met1080Ile
ENST00000400370.8:c.2283G>C	ENSP00000383221.3:p.Met761Ile
ENST00000418097.7:c.3378G>C	ENSP00000393343.2:p.Met1126Ile
ENST00000448424.6:c.3339G>C	ENSP00000416738.2:p.Met1113Ile
ENST00000634296.1:c.1351G>C
ENST00000634308.1:c.*674G>C	ENSP00000489234.1:n.*674G>C
ENST00000634620.1:n.4317G>C
ENST00000634810.1:n.2918G>C
ENST00000634844.1:c.3429G>C	ENSP00000489398.1:p.Met1143Ile
NM_000053.3:c.3573G>C	NP_000044.2:p.Met1191Ile
NM_001005918.2:c.2952G>C	NP_001005918.1:p.Met984Ile
NM_001243182.1:c.3240G>C	NP_001230111.1:p.Met1080Ile
XM_005266423.2:c.3477G>C	XP_005266480.1:p.Met1159Ile
XM_005266424.3:c.3477G>C	XP_005266481.1:p.Met1159Ile
XM_005266427.2:c.3339G>C	XP_005266484.1:p.Met1113Ile
XM_005266428.1:c.3321G>C	XP_005266485.1:p.Met1107Ile
XM_005266430.3:c.3573G>C	XP_005266487.1:p.Met1191Ile
XM_005266431.2:c.3537G>C	XP_005266488.1:p.Met1179Ile
XM_005266432.2:c.3087G>C	XP_005266489.1:p.Met1029Ile
XM_006719837.2:c.3477G>C	XP_006719900.1:p.Met1159Ile
XM_006719838.1:c.1389G>C	XP_006719901.1:p.Met463Ile
XM_006719839.1:c.1206G>C	XP_006719902.1:p.Met402Ile
XM_011535117.1:c.3477G>C	XP_011533419.1:p.Met1159Ile
XM_011535118.1:c.3438G>C	XP_011533420.1:p.Met1146Ile
XM_011535119.1:c.3390G>C	XP_011533421.1:p.Met1130Ile
XM_011535120.1:c.3159G>C	XP_011533422.1:p.Met1053Ile
XM_011535121.1:c.3060G>C	XP_011533423.1:p.Met1020Ile
XM_011535122.1:c.2241G>C	XP_011533424.1:p.Met747Ile
XR_941601.1:n.3792G>C
XR_941602.1:n.3792G>C
XR_941603.1:n.3792G>C
XR_941604.1:n.3792G>C
NM_001330578.1:c.3339G>C	NP_001317507.1:p.Met1113Ile
NM_001330579.1:c.3321G>C	NP_001317508.1:p.Met1107Ile
XM_005266424.4:c.3477G>C	XP_005266481.1:p.Met1159Ile
XM_005266430.4:c.3573G>C	XP_005266487.1:p.Met1191Ile
XM_005266431.4:c.3537G>C	XP_005266488.1:p.Met1179Ile
XM_006719837.3:c.3477G>C	XP_006719900.1:p.Met1159Ile
XM_011535117.3:c.3477G>C	XP_011533419.1:p.Met1159Ile
XM_017020627.1:c.3477G>C	XP_016876116.1:p.Met1159Ile
NM_000053.4:c.3573G>C MANE Select	NP_000044.2:p.Met1191Ile
NM_001005918.3:c.2952G>C	NP_001005918.1:p.Met984Ile
NM_001330579.2:c.3321G>C	NP_001317508.1:p.Met1107Ile
NM_001243182.2:c.3240G>C	NP_001230111.1:p.Met1080Ile
NM_001330578.2:c.3339G>C	NP_001317507.1:p.Met1113Ile