Canonical Allele Identifier: CA388025947

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1162215
• ClinVar RCV Id: RCV001506989
• dbSNP Id: rs2138775370
• gnomAD v4: 13-51941090-C-T
• MyVariant Identifiers: chr13:g.52515226C>T (hg19) ; chr13:g.51941090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941090C>T , CM000675.2:g.51941090C>T	GRCh38
NC_000013.10:g.52515226C>T , CM000675.1:g.52515226C>T	GRCh37
NC_000013.9:g.51413227C>T	NCBI36
NG_008806.1:g.75405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1197G>A	ENSP00000489512.2:n.*1197G>A
ENST00000673864.2:c.*2291G>A	ENSP00000501045.2:n.*2291G>A
ENST00000674147.2:c.2926G>A	ENSP00000500964.2:p.Ala976Thr
ENST00000242839.10:c.3547G>A MANE Select	ENSP00000242839.5:p.Ala1183Thr
ENST00000344297.9:c.2926G>A	ENSP00000342559.5:p.Ala976Thr
ENST00000400366.6:c.3214G>A	ENSP00000383217.3:p.Ala1072Thr
ENST00000448424.7:c.3295G>A	ENSP00000416738.3:p.Ala1099Thr
ENST00000673772.1:c.3313G>A	ENSP00000501168.1:p.Ala1105Thr
ENST00000673867.1:n.3686G>A
ENST00000674126.1:n.3910G>A
ENST00000674147.1:c.2482G>A	ENSP00000500964.1:p.Ala828Thr
ENST00000242839.8:c.3547G>A	ENSP00000242839.4:p.Ala1183Thr
ENST00000344297.8:c.2926G>A	ENSP00000342559.5:p.Ala976Thr
ENST00000400366.5:c.3214G>A	ENSP00000383217.3:p.Ala1072Thr
ENST00000400370.8:c.2257G>A	ENSP00000383221.3:p.Ala753Thr
ENST00000418097.7:c.3352G>A	ENSP00000393343.2:p.Ala1118Thr
ENST00000448424.6:c.3313G>A	ENSP00000416738.2:p.Ala1105Thr
ENST00000634296.1:c.1325G>A
ENST00000634308.1:c.*648G>A	ENSP00000489234.1:n.*648G>A
ENST00000634620.1:n.4291G>A
ENST00000634810.1:n.2892G>A
ENST00000634844.1:c.3403G>A	ENSP00000489398.1:p.Ala1135Thr
NM_000053.3:c.3547G>A	NP_000044.2:p.Ala1183Thr
NM_001005918.2:c.2926G>A	NP_001005918.1:p.Ala976Thr
NM_001243182.1:c.3214G>A	NP_001230111.1:p.Ala1072Thr
XM_005266423.2:c.3451G>A	XP_005266480.1:p.Ala1151Thr
XM_005266424.3:c.3451G>A	XP_005266481.1:p.Ala1151Thr
XM_005266427.2:c.3313G>A	XP_005266484.1:p.Ala1105Thr
XM_005266428.1:c.3295G>A	XP_005266485.1:p.Ala1099Thr
XM_005266430.3:c.3547G>A	XP_005266487.1:p.Ala1183Thr
XM_005266431.2:c.3511G>A	XP_005266488.1:p.Ala1171Thr
XM_005266432.2:c.3061G>A	XP_005266489.1:p.Ala1021Thr
XM_006719837.2:c.3451G>A	XP_006719900.1:p.Ala1151Thr
XM_006719838.1:c.1363G>A	XP_006719901.1:p.Ala455Thr
XM_006719839.1:c.1180G>A	XP_006719902.1:p.Ala394Thr
XM_011535117.1:c.3451G>A	XP_011533419.1:p.Ala1151Thr
XM_011535118.1:c.3412G>A	XP_011533420.1:p.Ala1138Thr
XM_011535119.1:c.3364G>A	XP_011533421.1:p.Ala1122Thr
XM_011535120.1:c.3133G>A	XP_011533422.1:p.Ala1045Thr
XM_011535121.1:c.3034G>A	XP_011533423.1:p.Ala1012Thr
XM_011535122.1:c.2215G>A	XP_011533424.1:p.Ala739Thr
XR_941601.1:n.3766G>A
XR_941602.1:n.3766G>A
XR_941603.1:n.3766G>A
XR_941604.1:n.3766G>A
NM_001330578.1:c.3313G>A	NP_001317507.1:p.Ala1105Thr
NM_001330579.1:c.3295G>A	NP_001317508.1:p.Ala1099Thr
XM_005266424.4:c.3451G>A	XP_005266481.1:p.Ala1151Thr
XM_005266430.4:c.3547G>A	XP_005266487.1:p.Ala1183Thr
XM_005266431.4:c.3511G>A	XP_005266488.1:p.Ala1171Thr
XM_006719837.3:c.3451G>A	XP_006719900.1:p.Ala1151Thr
XM_011535117.3:c.3451G>A	XP_011533419.1:p.Ala1151Thr
XM_017020627.1:c.3451G>A	XP_016876116.1:p.Ala1151Thr
NM_000053.4:c.3547G>A MANE Select	NP_000044.2:p.Ala1183Thr
NM_001005918.3:c.2926G>A	NP_001005918.1:p.Ala976Thr
NM_001330579.2:c.3295G>A	NP_001317508.1:p.Ala1099Thr
NM_001243182.2:c.3214G>A	NP_001230111.1:p.Ala1072Thr
NM_001330578.2:c.3313G>A	NP_001317507.1:p.Ala1105Thr