Canonical Allele Identifier: CA388026317

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515272G>C (hg19) ; chr13:g.51941136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941136G>C , CM000675.2:g.51941136G>C	GRCh38
NC_000013.10:g.52515272G>C , CM000675.1:g.52515272G>C	GRCh37
NC_000013.9:g.51413273G>C	NCBI36
NG_008806.1:g.75359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1151C>G	ENSP00000489512.2:n.*1151C>G
ENST00000673864.2:c.*2245C>G	ENSP00000501045.2:n.*2245C>G
ENST00000674147.2:c.2880C>G	ENSP00000500964.2:p.Asp960Glu
ENST00000242839.10:c.3501C>G MANE Select	ENSP00000242839.5:p.Asp1167Glu
ENST00000344297.9:c.2880C>G	ENSP00000342559.5:p.Asp960Glu
ENST00000400366.6:c.3168C>G	ENSP00000383217.3:p.Asp1056Glu
ENST00000448424.7:c.3249C>G	ENSP00000416738.3:p.Asp1083Glu
ENST00000673772.1:c.3267C>G	ENSP00000501168.1:p.Asp1089Glu
ENST00000673867.1:n.3640C>G
ENST00000674126.1:n.3864C>G
ENST00000674147.1:c.2436C>G	ENSP00000500964.1:p.Asp812Glu
ENST00000242839.8:c.3501C>G	ENSP00000242839.4:p.Asp1167Glu
ENST00000344297.8:c.2880C>G	ENSP00000342559.5:p.Asp960Glu
ENST00000400366.5:c.3168C>G	ENSP00000383217.3:p.Asp1056Glu
ENST00000400370.8:c.2211C>G	ENSP00000383221.3:p.Asp737Glu
ENST00000418097.7:c.3306C>G	ENSP00000393343.2:p.Asp1102Glu
ENST00000448424.6:c.3267C>G	ENSP00000416738.2:p.Asp1089Glu
ENST00000634296.1:c.1279C>G
ENST00000634308.1:c.*602C>G	ENSP00000489234.1:n.*602C>G
ENST00000634620.1:n.4245C>G
ENST00000634810.1:n.2846C>G
ENST00000634844.1:c.3357C>G	ENSP00000489398.1:p.Asp1119Glu
NM_000053.3:c.3501C>G	NP_000044.2:p.Asp1167Glu
NM_001005918.2:c.2880C>G	NP_001005918.1:p.Asp960Glu
NM_001243182.1:c.3168C>G	NP_001230111.1:p.Asp1056Glu
XM_005266423.2:c.3405C>G	XP_005266480.1:p.Asp1135Glu
XM_005266424.3:c.3405C>G	XP_005266481.1:p.Asp1135Glu
XM_005266427.2:c.3267C>G	XP_005266484.1:p.Asp1089Glu
XM_005266428.1:c.3249C>G	XP_005266485.1:p.Asp1083Glu
XM_005266430.3:c.3501C>G	XP_005266487.1:p.Asp1167Glu
XM_005266431.2:c.3465C>G	XP_005266488.1:p.Asp1155Glu
XM_005266432.2:c.3015C>G	XP_005266489.1:p.Asp1005Glu
XM_006719837.2:c.3405C>G	XP_006719900.1:p.Asp1135Glu
XM_006719838.1:c.1317C>G	XP_006719901.1:p.Asp439Glu
XM_006719839.1:c.1134C>G	XP_006719902.1:p.Asp378Glu
XM_011535117.1:c.3405C>G	XP_011533419.1:p.Asp1135Glu
XM_011535118.1:c.3366C>G	XP_011533420.1:p.Asp1122Glu
XM_011535119.1:c.3318C>G	XP_011533421.1:p.Asp1106Glu
XM_011535120.1:c.3087C>G	XP_011533422.1:p.Asp1029Glu
XM_011535121.1:c.2988C>G	XP_011533423.1:p.Asp996Glu
XM_011535122.1:c.2169C>G	XP_011533424.1:p.Asp723Glu
XR_941601.1:n.3720C>G
XR_941602.1:n.3720C>G
XR_941603.1:n.3720C>G
XR_941604.1:n.3720C>G
NM_001330578.1:c.3267C>G	NP_001317507.1:p.Asp1089Glu
NM_001330579.1:c.3249C>G	NP_001317508.1:p.Asp1083Glu
XM_005266424.4:c.3405C>G	XP_005266481.1:p.Asp1135Glu
XM_005266430.4:c.3501C>G	XP_005266487.1:p.Asp1167Glu
XM_005266431.4:c.3465C>G	XP_005266488.1:p.Asp1155Glu
XM_006719837.3:c.3405C>G	XP_006719900.1:p.Asp1135Glu
XM_011535117.3:c.3405C>G	XP_011533419.1:p.Asp1135Glu
XM_017020627.1:c.3405C>G	XP_016876116.1:p.Asp1135Glu
NM_000053.4:c.3501C>G MANE Select	NP_000044.2:p.Asp1167Glu
NM_001005918.3:c.2880C>G	NP_001005918.1:p.Asp960Glu
NM_001330579.2:c.3249C>G	NP_001317508.1:p.Asp1083Glu
NM_001243182.2:c.3168C>G	NP_001230111.1:p.Asp1056Glu
NM_001330578.2:c.3267C>G	NP_001317507.1:p.Asp1089Glu