Canonical Allele Identifier: CA388024213

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939128-T-C
• MyVariant Identifiers: chr13:g.52513264T>C (hg19) ; chr13:g.51939128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939128T>C , CM000675.2:g.51939128T>C	GRCh38
NC_000013.10:g.52513264T>C , CM000675.1:g.52513264T>C	GRCh37
NC_000013.9:g.51411265T>C	NCBI36
NG_008806.1:g.77367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1272A>G	ENSP00000489512.2:n.*1272A>G
ENST00000673864.2:c.*2366A>G	ENSP00000501045.2:n.*2366A>G
ENST00000674147.2:c.3001A>G	ENSP00000500964.2:p.Thr1001Ala
ENST00000242839.10:c.3622A>G MANE Select	ENSP00000242839.5:p.Thr1208Ala
ENST00000344297.9:c.3001A>G	ENSP00000342559.5:p.Thr1001Ala
ENST00000400366.6:c.3289A>G	ENSP00000383217.3:p.Thr1097Ala
ENST00000448424.7:c.3370A>G	ENSP00000416738.3:p.Thr1124Ala
ENST00000673696.1:n.863A>G
ENST00000673772.1:c.3388A>G	ENSP00000501168.1:p.Thr1130Ala
ENST00000673867.1:n.3761A>G
ENST00000673923.1:n.488A>G
ENST00000674147.1:c.2557A>G	ENSP00000500964.1:p.Thr853Ala
ENST00000242839.8:c.3622A>G	ENSP00000242839.4:p.Thr1208Ala
ENST00000344297.8:c.3001A>G	ENSP00000342559.5:p.Thr1001Ala
ENST00000400366.5:c.3289A>G	ENSP00000383217.3:p.Thr1097Ala
ENST00000400370.8:c.2332A>G	ENSP00000383221.3:p.Thr778Ala
ENST00000418097.7:c.3427A>G	ENSP00000393343.2:p.Thr1143Ala
ENST00000448424.6:c.3388A>G	ENSP00000416738.2:p.Thr1130Ala
ENST00000634296.1:c.1400A>G
ENST00000634308.1:c.*723A>G	ENSP00000489234.1:n.*723A>G
ENST00000634620.1:n.4366A>G
ENST00000634810.1:n.2967A>G
ENST00000634844.1:c.3478A>G	ENSP00000489398.1:p.Thr1160Ala
NM_000053.3:c.3622A>G	NP_000044.2:p.Thr1208Ala
NM_001005918.2:c.3001A>G	NP_001005918.1:p.Thr1001Ala
NM_001243182.1:c.3289A>G	NP_001230111.1:p.Thr1097Ala
XM_005266423.2:c.3526A>G	XP_005266480.1:p.Thr1176Ala
XM_005266424.3:c.3526A>G	XP_005266481.1:p.Thr1176Ala
XM_005266427.2:c.3388A>G	XP_005266484.1:p.Thr1130Ala
XM_005266428.1:c.3370A>G	XP_005266485.1:p.Thr1124Ala
XM_005266430.3:c.3622A>G	XP_005266487.1:p.Thr1208Ala
XM_005266431.2:c.3586A>G	XP_005266488.1:p.Thr1196Ala
XM_005266432.2:c.3136A>G	XP_005266489.1:p.Thr1046Ala
XM_006719837.2:c.3526A>G	XP_006719900.1:p.Thr1176Ala
XM_006719838.1:c.1438A>G	XP_006719901.1:p.Thr480Ala
XM_006719839.1:c.1255A>G	XP_006719902.1:p.Thr419Ala
XM_011535117.1:c.3526A>G	XP_011533419.1:p.Thr1176Ala
XM_011535118.1:c.3487A>G	XP_011533420.1:p.Thr1163Ala
XM_011535119.1:c.3439A>G	XP_011533421.1:p.Thr1147Ala
XM_011535120.1:c.3208A>G	XP_011533422.1:p.Thr1070Ala
XM_011535121.1:c.3109A>G	XP_011533423.1:p.Thr1037Ala
XM_011535122.1:c.2290A>G	XP_011533424.1:p.Thr764Ala
XR_941601.1:n.3841A>G
XR_941602.1:n.3841A>G
XR_941603.1:n.3841A>G
XR_941604.1:n.3841A>G
NM_001330578.1:c.3388A>G	NP_001317507.1:p.Thr1130Ala
NM_001330579.1:c.3370A>G	NP_001317508.1:p.Thr1124Ala
XM_005266424.4:c.3526A>G	XP_005266481.1:p.Thr1176Ala
XM_005266430.4:c.3622A>G	XP_005266487.1:p.Thr1208Ala
XM_005266431.4:c.3586A>G	XP_005266488.1:p.Thr1196Ala
XM_006719837.3:c.3526A>G	XP_006719900.1:p.Thr1176Ala
XM_011535117.3:c.3526A>G	XP_011533419.1:p.Thr1176Ala
XM_017020627.1:c.3526A>G	XP_016876116.1:p.Thr1176Ala
NM_000053.4:c.3622A>G MANE Select	NP_000044.2:p.Thr1208Ala
NM_001005918.3:c.3001A>G	NP_001005918.1:p.Thr1001Ala
NM_001330579.2:c.3370A>G	NP_001317508.1:p.Thr1124Ala
NM_001243182.2:c.3289A>G	NP_001230111.1:p.Thr1097Ala
NM_001330578.2:c.3388A>G	NP_001317507.1:p.Thr1130Ala