Canonical Allele Identifier: CA388023941

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513239A>C (hg19) ; chr13:g.51939103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939103A>C , CM000675.2:g.51939103A>C	GRCh38
NC_000013.10:g.52513239A>C , CM000675.1:g.52513239A>C	GRCh37
NC_000013.9:g.51411240A>C	NCBI36
NG_008806.1:g.77392T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1297T>G	ENSP00000489512.2:n.*1297T>G
ENST00000673864.2:c.*2391T>G	ENSP00000501045.2:n.*2391T>G
ENST00000674147.2:c.3026T>G	ENSP00000500964.2:p.Val1009Gly
ENST00000242839.10:c.3647T>G MANE Select	ENSP00000242839.5:p.Val1216Gly
ENST00000344297.9:c.3026T>G	ENSP00000342559.5:p.Val1009Gly
ENST00000400366.6:c.3314T>G	ENSP00000383217.3:p.Val1105Gly
ENST00000448424.7:c.3395T>G	ENSP00000416738.3:p.Val1132Gly
ENST00000673696.1:n.888T>G
ENST00000673772.1:c.3413T>G	ENSP00000501168.1:p.Val1138Gly
ENST00000673867.1:n.3786T>G
ENST00000673923.1:n.513T>G
ENST00000674147.1:c.2582T>G	ENSP00000500964.1:p.Val861Gly
ENST00000242839.8:c.3647T>G	ENSP00000242839.4:p.Val1216Gly
ENST00000344297.8:c.3026T>G	ENSP00000342559.5:p.Val1009Gly
ENST00000400366.5:c.3314T>G	ENSP00000383217.3:p.Val1105Gly
ENST00000400370.8:c.2357T>G	ENSP00000383221.3:p.Val786Gly
ENST00000418097.7:c.3452T>G	ENSP00000393343.2:p.Val1151Gly
ENST00000448424.6:c.3413T>G	ENSP00000416738.2:p.Val1138Gly
ENST00000634296.1:c.1425T>G
ENST00000634308.1:c.*748T>G	ENSP00000489234.1:n.*748T>G
ENST00000634620.1:n.4391T>G
ENST00000634810.1:n.2992T>G
ENST00000634844.1:c.3503T>G	ENSP00000489398.1:p.Val1168Gly
NM_000053.3:c.3647T>G	NP_000044.2:p.Val1216Gly
NM_001005918.2:c.3026T>G	NP_001005918.1:p.Val1009Gly
NM_001243182.1:c.3314T>G	NP_001230111.1:p.Val1105Gly
XM_005266423.2:c.3551T>G	XP_005266480.1:p.Val1184Gly
XM_005266424.3:c.3551T>G	XP_005266481.1:p.Val1184Gly
XM_005266427.2:c.3413T>G	XP_005266484.1:p.Val1138Gly
XM_005266428.1:c.3395T>G	XP_005266485.1:p.Val1132Gly
XM_005266430.3:c.3647T>G	XP_005266487.1:p.Val1216Gly
XM_005266431.2:c.3611T>G	XP_005266488.1:p.Val1204Gly
XM_005266432.2:c.3161T>G	XP_005266489.1:p.Val1054Gly
XM_006719837.2:c.3551T>G	XP_006719900.1:p.Val1184Gly
XM_006719838.1:c.1463T>G	XP_006719901.1:p.Val488Gly
XM_006719839.1:c.1280T>G	XP_006719902.1:p.Val427Gly
XM_011535117.1:c.3551T>G	XP_011533419.1:p.Val1184Gly
XM_011535118.1:c.3512T>G	XP_011533420.1:p.Val1171Gly
XM_011535119.1:c.3464T>G	XP_011533421.1:p.Val1155Gly
XM_011535120.1:c.3233T>G	XP_011533422.1:p.Val1078Gly
XM_011535121.1:c.3134T>G	XP_011533423.1:p.Val1045Gly
XM_011535122.1:c.2315T>G	XP_011533424.1:p.Val772Gly
XR_941601.1:n.3866T>G
XR_941602.1:n.3866T>G
XR_941603.1:n.3866T>G
XR_941604.1:n.3866T>G
NM_001330578.1:c.3413T>G	NP_001317507.1:p.Val1138Gly
NM_001330579.1:c.3395T>G	NP_001317508.1:p.Val1132Gly
XM_005266424.4:c.3551T>G	XP_005266481.1:p.Val1184Gly
XM_005266430.4:c.3647T>G	XP_005266487.1:p.Val1216Gly
XM_005266431.4:c.3611T>G	XP_005266488.1:p.Val1204Gly
XM_006719837.3:c.3551T>G	XP_006719900.1:p.Val1184Gly
XM_011535117.3:c.3551T>G	XP_011533419.1:p.Val1184Gly
XM_017020627.1:c.3551T>G	XP_016876116.1:p.Val1184Gly
NM_000053.4:c.3647T>G MANE Select	NP_000044.2:p.Val1216Gly
NM_001005918.3:c.3026T>G	NP_001005918.1:p.Val1009Gly
NM_001330579.2:c.3395T>G	NP_001317508.1:p.Val1132Gly
NM_001243182.2:c.3314T>G	NP_001230111.1:p.Val1105Gly
NM_001330578.2:c.3413T>G	NP_001317507.1:p.Val1138Gly