Canonical Allele Identifier: CA388025972

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515231A>T (hg19) ; chr13:g.51941095A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941095A>T , CM000675.2:g.51941095A>T	GRCh38
NC_000013.10:g.52515231A>T , CM000675.1:g.52515231A>T	GRCh37
NC_000013.9:g.51413232A>T	NCBI36
NG_008806.1:g.75400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1192T>A	ENSP00000489512.2:n.*1192T>A
ENST00000673864.2:c.*2286T>A	ENSP00000501045.2:n.*2286T>A
ENST00000674147.2:c.2921T>A	ENSP00000500964.2:p.Leu974Gln
ENST00000242839.10:c.3542T>A MANE Select	ENSP00000242839.5:p.Leu1181Gln
ENST00000344297.9:c.2921T>A	ENSP00000342559.5:p.Leu974Gln
ENST00000400366.6:c.3209T>A	ENSP00000383217.3:p.Leu1070Gln
ENST00000448424.7:c.3290T>A	ENSP00000416738.3:p.Leu1097Gln
ENST00000673772.1:c.3308T>A	ENSP00000501168.1:p.Leu1103Gln
ENST00000673867.1:n.3681T>A
ENST00000674126.1:n.3905T>A
ENST00000674147.1:c.2477T>A	ENSP00000500964.1:p.Leu826Gln
ENST00000242839.8:c.3542T>A	ENSP00000242839.4:p.Leu1181Gln
ENST00000344297.8:c.2921T>A	ENSP00000342559.5:p.Leu974Gln
ENST00000400366.5:c.3209T>A	ENSP00000383217.3:p.Leu1070Gln
ENST00000400370.8:c.2252T>A	ENSP00000383221.3:p.Leu751Gln
ENST00000418097.7:c.3347T>A	ENSP00000393343.2:p.Leu1116Gln
ENST00000448424.6:c.3308T>A	ENSP00000416738.2:p.Leu1103Gln
ENST00000634296.1:c.1320T>A
ENST00000634308.1:c.*643T>A	ENSP00000489234.1:n.*643T>A
ENST00000634620.1:n.4286T>A
ENST00000634810.1:n.2887T>A
ENST00000634844.1:c.3398T>A	ENSP00000489398.1:p.Leu1133Gln
NM_000053.3:c.3542T>A	NP_000044.2:p.Leu1181Gln
NM_001005918.2:c.2921T>A	NP_001005918.1:p.Leu974Gln
NM_001243182.1:c.3209T>A	NP_001230111.1:p.Leu1070Gln
XM_005266423.2:c.3446T>A	XP_005266480.1:p.Leu1149Gln
XM_005266424.3:c.3446T>A	XP_005266481.1:p.Leu1149Gln
XM_005266427.2:c.3308T>A	XP_005266484.1:p.Leu1103Gln
XM_005266428.1:c.3290T>A	XP_005266485.1:p.Leu1097Gln
XM_005266430.3:c.3542T>A	XP_005266487.1:p.Leu1181Gln
XM_005266431.2:c.3506T>A	XP_005266488.1:p.Leu1169Gln
XM_005266432.2:c.3056T>A	XP_005266489.1:p.Leu1019Gln
XM_006719837.2:c.3446T>A	XP_006719900.1:p.Leu1149Gln
XM_006719838.1:c.1358T>A	XP_006719901.1:p.Leu453Gln
XM_006719839.1:c.1175T>A	XP_006719902.1:p.Leu392Gln
XM_011535117.1:c.3446T>A	XP_011533419.1:p.Leu1149Gln
XM_011535118.1:c.3407T>A	XP_011533420.1:p.Leu1136Gln
XM_011535119.1:c.3359T>A	XP_011533421.1:p.Leu1120Gln
XM_011535120.1:c.3128T>A	XP_011533422.1:p.Leu1043Gln
XM_011535121.1:c.3029T>A	XP_011533423.1:p.Leu1010Gln
XM_011535122.1:c.2210T>A	XP_011533424.1:p.Leu737Gln
XR_941601.1:n.3761T>A
XR_941602.1:n.3761T>A
XR_941603.1:n.3761T>A
XR_941604.1:n.3761T>A
NM_001330578.1:c.3308T>A	NP_001317507.1:p.Leu1103Gln
NM_001330579.1:c.3290T>A	NP_001317508.1:p.Leu1097Gln
XM_005266424.4:c.3446T>A	XP_005266481.1:p.Leu1149Gln
XM_005266430.4:c.3542T>A	XP_005266487.1:p.Leu1181Gln
XM_005266431.4:c.3506T>A	XP_005266488.1:p.Leu1169Gln
XM_006719837.3:c.3446T>A	XP_006719900.1:p.Leu1149Gln
XM_011535117.3:c.3446T>A	XP_011533419.1:p.Leu1149Gln
XM_017020627.1:c.3446T>A	XP_016876116.1:p.Leu1149Gln
NM_000053.4:c.3542T>A MANE Select	NP_000044.2:p.Leu1181Gln
NM_001005918.3:c.2921T>A	NP_001005918.1:p.Leu974Gln
NM_001330579.2:c.3290T>A	NP_001317508.1:p.Leu1097Gln
NM_001243182.2:c.3209T>A	NP_001230111.1:p.Leu1070Gln
NM_001330578.2:c.3308T>A	NP_001317507.1:p.Leu1103Gln