Canonical Allele Identifier: CA388024253

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513269A>C (hg19) ; chr13:g.51939133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939133A>C , CM000675.2:g.51939133A>C	GRCh38
NC_000013.10:g.52513269A>C , CM000675.1:g.52513269A>C	GRCh37
NC_000013.9:g.51411270A>C	NCBI36
NG_008806.1:g.77362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1267T>G	ENSP00000489512.2:n.*1267T>G
ENST00000673864.2:c.*2361T>G	ENSP00000501045.2:n.*2361T>G
ENST00000674147.2:c.2996T>G	ENSP00000500964.2:p.Val999Gly
ENST00000242839.10:c.3617T>G MANE Select	ENSP00000242839.5:p.Val1206Gly
ENST00000344297.9:c.2996T>G	ENSP00000342559.5:p.Val999Gly
ENST00000400366.6:c.3284T>G	ENSP00000383217.3:p.Val1095Gly
ENST00000448424.7:c.3365T>G	ENSP00000416738.3:p.Val1122Gly
ENST00000673696.1:n.858T>G
ENST00000673772.1:c.3383T>G	ENSP00000501168.1:p.Val1128Gly
ENST00000673867.1:n.3756T>G
ENST00000673923.1:n.483T>G
ENST00000674147.1:c.2552T>G	ENSP00000500964.1:p.Val851Gly
ENST00000242839.8:c.3617T>G	ENSP00000242839.4:p.Val1206Gly
ENST00000344297.8:c.2996T>G	ENSP00000342559.5:p.Val999Gly
ENST00000400366.5:c.3284T>G	ENSP00000383217.3:p.Val1095Gly
ENST00000400370.8:c.2327T>G	ENSP00000383221.3:p.Val776Gly
ENST00000418097.7:c.3422T>G	ENSP00000393343.2:p.Val1141Gly
ENST00000448424.6:c.3383T>G	ENSP00000416738.2:p.Val1128Gly
ENST00000634296.1:c.1395T>G
ENST00000634308.1:c.*718T>G	ENSP00000489234.1:n.*718T>G
ENST00000634620.1:n.4361T>G
ENST00000634810.1:n.2962T>G
ENST00000634844.1:c.3473T>G	ENSP00000489398.1:p.Val1158Gly
NM_000053.3:c.3617T>G	NP_000044.2:p.Val1206Gly
NM_001005918.2:c.2996T>G	NP_001005918.1:p.Val999Gly
NM_001243182.1:c.3284T>G	NP_001230111.1:p.Val1095Gly
XM_005266423.2:c.3521T>G	XP_005266480.1:p.Val1174Gly
XM_005266424.3:c.3521T>G	XP_005266481.1:p.Val1174Gly
XM_005266427.2:c.3383T>G	XP_005266484.1:p.Val1128Gly
XM_005266428.1:c.3365T>G	XP_005266485.1:p.Val1122Gly
XM_005266430.3:c.3617T>G	XP_005266487.1:p.Val1206Gly
XM_005266431.2:c.3581T>G	XP_005266488.1:p.Val1194Gly
XM_005266432.2:c.3131T>G	XP_005266489.1:p.Val1044Gly
XM_006719837.2:c.3521T>G	XP_006719900.1:p.Val1174Gly
XM_006719838.1:c.1433T>G	XP_006719901.1:p.Val478Gly
XM_006719839.1:c.1250T>G	XP_006719902.1:p.Val417Gly
XM_011535117.1:c.3521T>G	XP_011533419.1:p.Val1174Gly
XM_011535118.1:c.3482T>G	XP_011533420.1:p.Val1161Gly
XM_011535119.1:c.3434T>G	XP_011533421.1:p.Val1145Gly
XM_011535120.1:c.3203T>G	XP_011533422.1:p.Val1068Gly
XM_011535121.1:c.3104T>G	XP_011533423.1:p.Val1035Gly
XM_011535122.1:c.2285T>G	XP_011533424.1:p.Val762Gly
XR_941601.1:n.3836T>G
XR_941602.1:n.3836T>G
XR_941603.1:n.3836T>G
XR_941604.1:n.3836T>G
NM_001330578.1:c.3383T>G	NP_001317507.1:p.Val1128Gly
NM_001330579.1:c.3365T>G	NP_001317508.1:p.Val1122Gly
XM_005266424.4:c.3521T>G	XP_005266481.1:p.Val1174Gly
XM_005266430.4:c.3617T>G	XP_005266487.1:p.Val1206Gly
XM_005266431.4:c.3581T>G	XP_005266488.1:p.Val1194Gly
XM_006719837.3:c.3521T>G	XP_006719900.1:p.Val1174Gly
XM_011535117.3:c.3521T>G	XP_011533419.1:p.Val1174Gly
XM_017020627.1:c.3521T>G	XP_016876116.1:p.Val1174Gly
NM_000053.4:c.3617T>G MANE Select	NP_000044.2:p.Val1206Gly
NM_001005918.3:c.2996T>G	NP_001005918.1:p.Val999Gly
NM_001330579.2:c.3365T>G	NP_001317508.1:p.Val1122Gly
NM_001243182.2:c.3284T>G	NP_001230111.1:p.Val1095Gly
NM_001330578.2:c.3383T>G	NP_001317507.1:p.Val1128Gly