Canonical Allele Identifier: CA388024806

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939185-A-G
• MyVariant Identifiers: chr13:g.52513321A>G (hg19) ; chr13:g.51939185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939185A>G , CM000675.2:g.51939185A>G	GRCh38
NC_000013.10:g.52513321A>G , CM000675.1:g.52513321A>G	GRCh37
NC_000013.9:g.51411322A>G	NCBI36
NG_008806.1:g.77310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1215T>C	ENSP00000489512.2:n.*1215T>C
ENST00000673864.2:c.*2309T>C	ENSP00000501045.2:n.*2309T>C
ENST00000674147.2:c.2944T>C	ENSP00000500964.2:p.Cys982Arg
ENST00000242839.10:c.3565T>C MANE Select	ENSP00000242839.5:p.Cys1189Arg
ENST00000344297.9:c.2944T>C	ENSP00000342559.5:p.Cys982Arg
ENST00000400366.6:c.3232T>C	ENSP00000383217.3:p.Cys1078Arg
ENST00000448424.7:c.3313T>C	ENSP00000416738.3:p.Cys1105Arg
ENST00000673696.1:n.806T>C
ENST00000673772.1:c.3331T>C	ENSP00000501168.1:p.Cys1111Arg
ENST00000673867.1:n.3704T>C
ENST00000673923.1:n.431T>C
ENST00000674147.1:c.2500T>C	ENSP00000500964.1:p.Cys834Arg
ENST00000242839.8:c.3565T>C	ENSP00000242839.4:p.Cys1189Arg
ENST00000344297.8:c.2944T>C	ENSP00000342559.5:p.Cys982Arg
ENST00000400366.5:c.3232T>C	ENSP00000383217.3:p.Cys1078Arg
ENST00000400370.8:c.2275T>C	ENSP00000383221.3:p.Cys759Arg
ENST00000418097.7:c.3370T>C	ENSP00000393343.2:p.Cys1124Arg
ENST00000448424.6:c.3331T>C	ENSP00000416738.2:p.Cys1111Arg
ENST00000634296.1:c.1343T>C
ENST00000634308.1:c.*666T>C	ENSP00000489234.1:n.*666T>C
ENST00000634620.1:n.4309T>C
ENST00000634810.1:n.2910T>C
ENST00000634844.1:c.3421T>C	ENSP00000489398.1:p.Cys1141Arg
NM_000053.3:c.3565T>C	NP_000044.2:p.Cys1189Arg
NM_001005918.2:c.2944T>C	NP_001005918.1:p.Cys982Arg
NM_001243182.1:c.3232T>C	NP_001230111.1:p.Cys1078Arg
XM_005266423.2:c.3469T>C	XP_005266480.1:p.Cys1157Arg
XM_005266424.3:c.3469T>C	XP_005266481.1:p.Cys1157Arg
XM_005266427.2:c.3331T>C	XP_005266484.1:p.Cys1111Arg
XM_005266428.1:c.3313T>C	XP_005266485.1:p.Cys1105Arg
XM_005266430.3:c.3565T>C	XP_005266487.1:p.Cys1189Arg
XM_005266431.2:c.3529T>C	XP_005266488.1:p.Cys1177Arg
XM_005266432.2:c.3079T>C	XP_005266489.1:p.Cys1027Arg
XM_006719837.2:c.3469T>C	XP_006719900.1:p.Cys1157Arg
XM_006719838.1:c.1381T>C	XP_006719901.1:p.Cys461Arg
XM_006719839.1:c.1198T>C	XP_006719902.1:p.Cys400Arg
XM_011535117.1:c.3469T>C	XP_011533419.1:p.Cys1157Arg
XM_011535118.1:c.3430T>C	XP_011533420.1:p.Cys1144Arg
XM_011535119.1:c.3382T>C	XP_011533421.1:p.Cys1128Arg
XM_011535120.1:c.3151T>C	XP_011533422.1:p.Cys1051Arg
XM_011535121.1:c.3052T>C	XP_011533423.1:p.Cys1018Arg
XM_011535122.1:c.2233T>C	XP_011533424.1:p.Cys745Arg
XR_941601.1:n.3784T>C
XR_941602.1:n.3784T>C
XR_941603.1:n.3784T>C
XR_941604.1:n.3784T>C
NM_001330578.1:c.3331T>C	NP_001317507.1:p.Cys1111Arg
NM_001330579.1:c.3313T>C	NP_001317508.1:p.Cys1105Arg
XM_005266424.4:c.3469T>C	XP_005266481.1:p.Cys1157Arg
XM_005266430.4:c.3565T>C	XP_005266487.1:p.Cys1189Arg
XM_005266431.4:c.3529T>C	XP_005266488.1:p.Cys1177Arg
XM_006719837.3:c.3469T>C	XP_006719900.1:p.Cys1157Arg
XM_011535117.3:c.3469T>C	XP_011533419.1:p.Cys1157Arg
XM_017020627.1:c.3469T>C	XP_016876116.1:p.Cys1157Arg
NM_000053.4:c.3565T>C MANE Select	NP_000044.2:p.Cys1189Arg
NM_001005918.3:c.2944T>C	NP_001005918.1:p.Cys982Arg
NM_001330579.2:c.3313T>C	NP_001317508.1:p.Cys1105Arg
NM_001243182.2:c.3232T>C	NP_001230111.1:p.Cys1078Arg
NM_001330578.2:c.3331T>C	NP_001317507.1:p.Cys1111Arg