Canonical Allele Identifier: CA483893509

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511482A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937346A>C , CM000675.2:g.51937346A>C	GRCh38
NC_000013.10:g.52511482A>C , CM000675.1:g.52511482A>C	GRCh37
NC_000013.9:g.51409483A>C	NCBI36
NG_008806.1:g.79149T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1601T>G	ENSP00000489512.2:n.*1601T>G
ENST00000673864.2:c.*2695T>G	ENSP00000501045.2:n.*2695T>G
ENST00000674147.2:c.3330T>G	ENSP00000500964.2:p.Thr1110=
ENST00000242839.10:c.3951T>G MANE Select	ENSP00000242839.5:p.Thr1317=
ENST00000344297.9:c.3330T>G	ENSP00000342559.5:p.Thr1110=
ENST00000400366.6:c.3618T>G	ENSP00000383217.3:p.Thr1206=
ENST00000448424.7:c.3699T>G	ENSP00000416738.3:p.Thr1233=
ENST00000673696.1:n.1274T>G
ENST00000673772.1:c.3717T>G	ENSP00000501168.1:p.Thr1239=
ENST00000673867.1:n.4090T>G
ENST00000673923.1:n.817T>G
ENST00000674147.1:c.2886T>G	ENSP00000500964.1:p.Thr962=
ENST00000242839.8:c.3951T>G	ENSP00000242839.4:p.Thr1317=
ENST00000344297.8:c.3330T>G	ENSP00000342559.5:p.Thr1110=
ENST00000400366.5:c.3618T>G	ENSP00000383217.3:p.Thr1206=
ENST00000400370.8:c.2661T>G	ENSP00000383221.3:p.Thr887=
ENST00000418097.7:c.3756T>G	ENSP00000393343.2:p.Thr1252=
ENST00000448424.6:c.3717T>G	ENSP00000416738.2:p.Thr1239=
ENST00000634296.1:c.1729T>G
ENST00000634308.1:c.*1052T>G	ENSP00000489234.1:n.*1052T>G
ENST00000634620.1:n.4695T>G
ENST00000634810.1:n.3296T>G
ENST00000634844.1:c.3807T>G	ENSP00000489398.1:p.Thr1269=
NM_000053.3:c.3951T>G	NP_000044.2:p.Thr1317=
NM_001005918.2:c.3330T>G	NP_001005918.1:p.Thr1110=
NM_001243182.1:c.3618T>G	NP_001230111.1:p.Thr1206=
XM_005266423.2:c.3855T>G	XP_005266480.1:p.Thr1285=
XM_005266424.3:c.3855T>G	XP_005266481.1:p.Thr1285=
XM_005266427.2:c.3717T>G	XP_005266484.1:p.Thr1239=
XM_005266428.1:c.3699T>G	XP_005266485.1:p.Thr1233=
XM_005266430.3:c.3951T>G	XP_005266487.1:p.Thr1317=
XM_005266431.2:c.3915T>G	XP_005266488.1:p.Thr1305=
XM_005266432.2:c.3465T>G	XP_005266489.1:p.Thr1155=
XM_006719837.2:c.3855T>G	XP_006719900.1:p.Thr1285=
XM_006719838.1:c.1767T>G	XP_006719901.1:p.Thr589=
XM_006719839.1:c.1584T>G	XP_006719902.1:p.Thr528=
XM_011535117.1:c.3855T>G	XP_011533419.1:p.Thr1285=
XM_011535118.1:c.3816T>G	XP_011533420.1:p.Thr1272=
XM_011535119.1:c.3768T>G	XP_011533421.1:p.Thr1256=
XM_011535120.1:c.3537T>G	XP_011533422.1:p.Thr1179=
XM_011535121.1:c.3438T>G	XP_011533423.1:p.Thr1146=
XM_011535122.1:c.2619T>G	XP_011533424.1:p.Thr873=
XR_941601.1:n.4170T>G
XR_941602.1:n.4170T>G
XR_941603.1:n.4170T>G
XR_941604.1:n.4170T>G
NM_001330578.1:c.3717T>G	NP_001317507.1:p.Thr1239=
NM_001330579.1:c.3699T>G	NP_001317508.1:p.Thr1233=
XM_005266424.4:c.3855T>G	XP_005266481.1:p.Thr1285=
XM_005266430.4:c.3951T>G	XP_005266487.1:p.Thr1317=
XM_005266431.4:c.3915T>G	XP_005266488.1:p.Thr1305=
XM_006719837.3:c.3855T>G	XP_006719900.1:p.Thr1285=
XM_011535117.3:c.3855T>G	XP_011533419.1:p.Thr1285=
XM_017020627.1:c.3855T>G	XP_016876116.1:p.Thr1285=
NM_000053.4:c.3951T>G MANE Select	NP_000044.2:p.Thr1317=
NM_001005918.3:c.3330T>G	NP_001005918.1:p.Thr1110=
NM_001330579.2:c.3699T>G	NP_001317508.1:p.Thr1233=
NM_001243182.2:c.3618T>G	NP_001230111.1:p.Thr1206=
NM_001330578.2:c.3717T>G	NP_001317507.1:p.Thr1239=