Canonical Allele Identifier: CA388038782

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3072443
• ClinVar RCV Id: RCV004013465
• gnomAD v4: 13-51974081-A-G
• MyVariant Identifiers: chr13:g.52548217A>G (hg19) ; chr13:g.51974081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974081A>G , CM000675.2:g.51974081A>G	GRCh38
NC_000013.10:g.52548217A>G , CM000675.1:g.52548217A>G	GRCh37
NC_000013.9:g.51446218A>G	NCBI36
NG_008806.1:g.42414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1139T>C	ENSP00000489512.2:p.Met380Thr
ENST00000673864.2:c.1139T>C	ENSP00000501045.2:p.Met380Thr
ENST00000674147.2:c.1139T>C	ENSP00000500964.2:p.Met380Thr
ENST00000242839.10:c.1139T>C MANE Select	ENSP00000242839.5:p.Met380Thr
ENST00000344297.9:c.1139T>C	ENSP00000342559.5:p.Met380Thr
ENST00000400366.6:c.806T>C	ENSP00000383217.3:p.Met269Thr
ENST00000448424.7:c.1139T>C	ENSP00000416738.3:p.Met380Thr
ENST00000673772.1:c.1139T>C	ENSP00000501168.1:p.Met380Thr
ENST00000673789.1:n.95T>C
ENST00000673864.1:c.95T>C	ENSP00000501045.1:p.Met32Thr
ENST00000674078.1:n.1244T>C
ENST00000674147.1:c.695T>C	ENSP00000500964.1:p.Met232Thr
ENST00000242839.8:c.1139T>C	ENSP00000242839.4:p.Met380Thr
ENST00000344297.8:c.1139T>C	ENSP00000342559.5:p.Met380Thr
ENST00000400366.5:c.806T>C	ENSP00000383217.3:p.Met269Thr
ENST00000400370.8:c.1139T>C	ENSP00000383221.3:p.Met380Thr
ENST00000418097.7:c.1139T>C	ENSP00000393343.2:p.Met380Thr
ENST00000448424.6:c.1139T>C	ENSP00000416738.2:p.Met380Thr
ENST00000482841.6:n.1260T>C
ENST00000634308.1:c.1139T>C	ENSP00000489234.1:p.Met380Thr
ENST00000634844.1:c.1139T>C	ENSP00000489398.1:p.Met380Thr
ENST00000635406.1:n.212-27603T>C
NM_000053.3:c.1139T>C	NP_000044.2:p.Met380Thr
NM_001005918.2:c.1139T>C	NP_001005918.1:p.Met380Thr
NM_001243182.1:c.806T>C	NP_001230111.1:p.Met269Thr
XM_005266423.2:c.1043T>C	XP_005266480.1:p.Met348Thr
XM_005266424.3:c.1043T>C	XP_005266481.1:p.Met348Thr
XM_005266427.2:c.1139T>C	XP_005266484.1:p.Met380Thr
XM_005266428.1:c.1139T>C	XP_005266485.1:p.Met380Thr
XM_005266430.3:c.1139T>C	XP_005266487.1:p.Met380Thr
XM_005266431.2:c.1103T>C	XP_005266488.1:p.Met368Thr
XM_005266432.2:c.1139T>C	XP_005266489.1:p.Met380Thr
XM_006719837.2:c.1043T>C	XP_006719900.1:p.Met348Thr
XM_011535117.1:c.1043T>C	XP_011533419.1:p.Met348Thr
XM_011535118.1:c.1139T>C	XP_011533420.1:p.Met380Thr
XM_011535119.1:c.1139T>C	XP_011533421.1:p.Met380Thr
XM_011535120.1:c.1139T>C	XP_011533422.1:p.Met380Thr
XM_011535121.1:c.1139T>C	XP_011533423.1:p.Met380Thr
XR_941601.1:n.1358T>C
XR_941602.1:n.1358T>C
XR_941603.1:n.1358T>C
XR_941604.1:n.1358T>C
NM_001330578.1:c.1139T>C	NP_001317507.1:p.Met380Thr
NM_001330579.1:c.1139T>C	NP_001317508.1:p.Met380Thr
XM_005266424.4:c.1043T>C	XP_005266481.1:p.Met348Thr
XM_005266430.4:c.1139T>C	XP_005266487.1:p.Met380Thr
XM_005266431.4:c.1103T>C	XP_005266488.1:p.Met368Thr
XM_006719837.3:c.1043T>C	XP_006719900.1:p.Met348Thr
XM_011535117.3:c.1043T>C	XP_011533419.1:p.Met348Thr
XM_017020627.1:c.1043T>C	XP_016876116.1:p.Met348Thr
NM_000053.4:c.1139T>C MANE Select	NP_000044.2:p.Met380Thr
NM_001005918.3:c.1139T>C	NP_001005918.1:p.Met380Thr
NM_001330579.2:c.1139T>C	NP_001317508.1:p.Met380Thr
NM_001243182.2:c.806T>C	NP_001230111.1:p.Met269Thr
NM_001330578.2:c.1139T>C	NP_001317507.1:p.Met380Thr