Canonical Allele Identifier: CA388024280

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939139-A-C
• MyVariant Identifiers: chr13:g.52513275A>C (hg19) ; chr13:g.51939139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939139A>C , CM000675.2:g.51939139A>C	GRCh38
NC_000013.10:g.52513275A>C , CM000675.1:g.52513275A>C	GRCh37
NC_000013.9:g.51411276A>C	NCBI36
NG_008806.1:g.77356T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1261T>G	ENSP00000489512.2:n.*1261T>G
ENST00000673864.2:c.*2355T>G	ENSP00000501045.2:n.*2355T>G
ENST00000674147.2:c.2990T>G	ENSP00000500964.2:p.Leu997Arg
ENST00000242839.10:c.3611T>G MANE Select	ENSP00000242839.5:p.Leu1204Arg
ENST00000344297.9:c.2990T>G	ENSP00000342559.5:p.Leu997Arg
ENST00000400366.6:c.3278T>G	ENSP00000383217.3:p.Leu1093Arg
ENST00000448424.7:c.3359T>G	ENSP00000416738.3:p.Leu1120Arg
ENST00000673696.1:n.852T>G
ENST00000673772.1:c.3377T>G	ENSP00000501168.1:p.Leu1126Arg
ENST00000673867.1:n.3750T>G
ENST00000673923.1:n.477T>G
ENST00000674147.1:c.2546T>G	ENSP00000500964.1:p.Leu849Arg
ENST00000242839.8:c.3611T>G	ENSP00000242839.4:p.Leu1204Arg
ENST00000344297.8:c.2990T>G	ENSP00000342559.5:p.Leu997Arg
ENST00000400366.5:c.3278T>G	ENSP00000383217.3:p.Leu1093Arg
ENST00000400370.8:c.2321T>G	ENSP00000383221.3:p.Leu774Arg
ENST00000418097.7:c.3416T>G	ENSP00000393343.2:p.Leu1139Arg
ENST00000448424.6:c.3377T>G	ENSP00000416738.2:p.Leu1126Arg
ENST00000634296.1:c.1389T>G
ENST00000634308.1:c.*712T>G	ENSP00000489234.1:n.*712T>G
ENST00000634620.1:n.4355T>G
ENST00000634810.1:n.2956T>G
ENST00000634844.1:c.3467T>G	ENSP00000489398.1:p.Leu1156Arg
NM_000053.3:c.3611T>G	NP_000044.2:p.Leu1204Arg
NM_001005918.2:c.2990T>G	NP_001005918.1:p.Leu997Arg
NM_001243182.1:c.3278T>G	NP_001230111.1:p.Leu1093Arg
XM_005266423.2:c.3515T>G	XP_005266480.1:p.Leu1172Arg
XM_005266424.3:c.3515T>G	XP_005266481.1:p.Leu1172Arg
XM_005266427.2:c.3377T>G	XP_005266484.1:p.Leu1126Arg
XM_005266428.1:c.3359T>G	XP_005266485.1:p.Leu1120Arg
XM_005266430.3:c.3611T>G	XP_005266487.1:p.Leu1204Arg
XM_005266431.2:c.3575T>G	XP_005266488.1:p.Leu1192Arg
XM_005266432.2:c.3125T>G	XP_005266489.1:p.Leu1042Arg
XM_006719837.2:c.3515T>G	XP_006719900.1:p.Leu1172Arg
XM_006719838.1:c.1427T>G	XP_006719901.1:p.Leu476Arg
XM_006719839.1:c.1244T>G	XP_006719902.1:p.Leu415Arg
XM_011535117.1:c.3515T>G	XP_011533419.1:p.Leu1172Arg
XM_011535118.1:c.3476T>G	XP_011533420.1:p.Leu1159Arg
XM_011535119.1:c.3428T>G	XP_011533421.1:p.Leu1143Arg
XM_011535120.1:c.3197T>G	XP_011533422.1:p.Leu1066Arg
XM_011535121.1:c.3098T>G	XP_011533423.1:p.Leu1033Arg
XM_011535122.1:c.2279T>G	XP_011533424.1:p.Leu760Arg
XR_941601.1:n.3830T>G
XR_941602.1:n.3830T>G
XR_941603.1:n.3830T>G
XR_941604.1:n.3830T>G
NM_001330578.1:c.3377T>G	NP_001317507.1:p.Leu1126Arg
NM_001330579.1:c.3359T>G	NP_001317508.1:p.Leu1120Arg
XM_005266424.4:c.3515T>G	XP_005266481.1:p.Leu1172Arg
XM_005266430.4:c.3611T>G	XP_005266487.1:p.Leu1204Arg
XM_005266431.4:c.3575T>G	XP_005266488.1:p.Leu1192Arg
XM_006719837.3:c.3515T>G	XP_006719900.1:p.Leu1172Arg
XM_011535117.3:c.3515T>G	XP_011533419.1:p.Leu1172Arg
XM_017020627.1:c.3515T>G	XP_016876116.1:p.Leu1172Arg
NM_000053.4:c.3611T>G MANE Select	NP_000044.2:p.Leu1204Arg
NM_001005918.3:c.2990T>G	NP_001005918.1:p.Leu997Arg
NM_001330579.2:c.3359T>G	NP_001317508.1:p.Leu1120Arg
NM_001243182.2:c.3278T>G	NP_001230111.1:p.Leu1093Arg
NM_001330578.2:c.3377T>G	NP_001317507.1:p.Leu1126Arg