Canonical Allele Identifier: CA388024830

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513324G>C (hg19) ; chr13:g.51939188G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939188G>C , CM000675.2:g.51939188G>C	GRCh38
NC_000013.10:g.52513324G>C , CM000675.1:g.52513324G>C	GRCh37
NC_000013.9:g.51411325G>C	NCBI36
NG_008806.1:g.77307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1212C>G	ENSP00000489512.2:n.*1212C>G
ENST00000673864.2:c.*2306C>G	ENSP00000501045.2:n.*2306C>G
ENST00000674147.2:c.2941C>G	ENSP00000500964.2:p.Leu981Val
ENST00000242839.10:c.3562C>G MANE Select	ENSP00000242839.5:p.Leu1188Val
ENST00000344297.9:c.2941C>G	ENSP00000342559.5:p.Leu981Val
ENST00000400366.6:c.3229C>G	ENSP00000383217.3:p.Leu1077Val
ENST00000448424.7:c.3310C>G	ENSP00000416738.3:p.Leu1104Val
ENST00000673696.1:n.803C>G
ENST00000673772.1:c.3328C>G	ENSP00000501168.1:p.Leu1110Val
ENST00000673867.1:n.3701C>G
ENST00000673923.1:n.428C>G
ENST00000674147.1:c.2497C>G	ENSP00000500964.1:p.Leu833Val
ENST00000242839.8:c.3562C>G	ENSP00000242839.4:p.Leu1188Val
ENST00000344297.8:c.2941C>G	ENSP00000342559.5:p.Leu981Val
ENST00000400366.5:c.3229C>G	ENSP00000383217.3:p.Leu1077Val
ENST00000400370.8:c.2272C>G	ENSP00000383221.3:p.Leu758Val
ENST00000418097.7:c.3367C>G	ENSP00000393343.2:p.Leu1123Val
ENST00000448424.6:c.3328C>G	ENSP00000416738.2:p.Leu1110Val
ENST00000634296.1:c.1340C>G
ENST00000634308.1:c.*663C>G	ENSP00000489234.1:n.*663C>G
ENST00000634620.1:n.4306C>G
ENST00000634810.1:n.2907C>G
ENST00000634844.1:c.3418C>G	ENSP00000489398.1:p.Leu1140Val
NM_000053.3:c.3562C>G	NP_000044.2:p.Leu1188Val
NM_001005918.2:c.2941C>G	NP_001005918.1:p.Leu981Val
NM_001243182.1:c.3229C>G	NP_001230111.1:p.Leu1077Val
XM_005266423.2:c.3466C>G	XP_005266480.1:p.Leu1156Val
XM_005266424.3:c.3466C>G	XP_005266481.1:p.Leu1156Val
XM_005266427.2:c.3328C>G	XP_005266484.1:p.Leu1110Val
XM_005266428.1:c.3310C>G	XP_005266485.1:p.Leu1104Val
XM_005266430.3:c.3562C>G	XP_005266487.1:p.Leu1188Val
XM_005266431.2:c.3526C>G	XP_005266488.1:p.Leu1176Val
XM_005266432.2:c.3076C>G	XP_005266489.1:p.Leu1026Val
XM_006719837.2:c.3466C>G	XP_006719900.1:p.Leu1156Val
XM_006719838.1:c.1378C>G	XP_006719901.1:p.Leu460Val
XM_006719839.1:c.1195C>G	XP_006719902.1:p.Leu399Val
XM_011535117.1:c.3466C>G	XP_011533419.1:p.Leu1156Val
XM_011535118.1:c.3427C>G	XP_011533420.1:p.Leu1143Val
XM_011535119.1:c.3379C>G	XP_011533421.1:p.Leu1127Val
XM_011535120.1:c.3148C>G	XP_011533422.1:p.Leu1050Val
XM_011535121.1:c.3049C>G	XP_011533423.1:p.Leu1017Val
XM_011535122.1:c.2230C>G	XP_011533424.1:p.Leu744Val
XR_941601.1:n.3781C>G
XR_941602.1:n.3781C>G
XR_941603.1:n.3781C>G
XR_941604.1:n.3781C>G
NM_001330578.1:c.3328C>G	NP_001317507.1:p.Leu1110Val
NM_001330579.1:c.3310C>G	NP_001317508.1:p.Leu1104Val
XM_005266424.4:c.3466C>G	XP_005266481.1:p.Leu1156Val
XM_005266430.4:c.3562C>G	XP_005266487.1:p.Leu1188Val
XM_005266431.4:c.3526C>G	XP_005266488.1:p.Leu1176Val
XM_006719837.3:c.3466C>G	XP_006719900.1:p.Leu1156Val
XM_011535117.3:c.3466C>G	XP_011533419.1:p.Leu1156Val
XM_017020627.1:c.3466C>G	XP_016876116.1:p.Leu1156Val
NM_000053.4:c.3562C>G MANE Select	NP_000044.2:p.Leu1188Val
NM_001005918.3:c.2941C>G	NP_001005918.1:p.Leu981Val
NM_001330579.2:c.3310C>G	NP_001317508.1:p.Leu1104Val
NM_001243182.2:c.3229C>G	NP_001230111.1:p.Leu1077Val
NM_001330578.2:c.3328C>G	NP_001317507.1:p.Leu1110Val