Canonical Allele Identifier: CA388020217

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51935671-A-G
• MyVariant Identifiers: chr13:g.52509807A>G (hg19) ; chr13:g.51935671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935671A>G , CM000675.2:g.51935671A>G	GRCh38
NC_000013.10:g.52509807A>G , CM000675.1:g.52509807A>G	GRCh37
NC_000013.9:g.51407808A>G	NCBI36
NG_008806.1:g.80824T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1696T>C	ENSP00000489512.2:n.*1696T>C
ENST00000673864.2:c.*2790T>C	ENSP00000501045.2:n.*2790T>C
ENST00000674147.2:c.3425T>C	ENSP00000500964.2:p.Val1142Ala
ENST00000242839.10:c.4046T>C MANE Select	ENSP00000242839.5:p.Val1349Ala
ENST00000344297.9:c.3425T>C	ENSP00000342559.5:p.Val1142Ala
ENST00000400366.6:c.3713T>C	ENSP00000383217.3:p.Val1238Ala
ENST00000448424.7:c.3794T>C	ENSP00000416738.3:p.Val1265Ala
ENST00000673696.1:n.1369T>C
ENST00000673772.1:c.3812T>C	ENSP00000501168.1:p.Val1271Ala
ENST00000673867.1:n.4185T>C
ENST00000673923.1:n.912T>C
ENST00000674147.1:c.2981T>C	ENSP00000500964.1:p.Val994Ala
ENST00000242839.8:c.4046T>C	ENSP00000242839.4:p.Val1349Ala
ENST00000344297.8:c.3425T>C	ENSP00000342559.5:p.Val1142Ala
ENST00000400366.5:c.3713T>C	ENSP00000383217.3:p.Val1238Ala
ENST00000400370.8:c.2756T>C	ENSP00000383221.3:p.Val919Ala
ENST00000418097.7:c.3851T>C	ENSP00000393343.2:p.Val1284Ala
ENST00000448424.6:c.3812T>C	ENSP00000416738.2:p.Val1271Ala
ENST00000634296.1:c.1824T>C
ENST00000634308.1:c.*1147T>C	ENSP00000489234.1:n.*1147T>C
ENST00000634620.1:n.4790T>C
ENST00000634810.1:n.3391T>C
ENST00000634844.1:c.3902T>C	ENSP00000489398.1:p.Val1301Ala
NM_000053.3:c.4046T>C	NP_000044.2:p.Val1349Ala
NM_001005918.2:c.3425T>C	NP_001005918.1:p.Val1142Ala
NM_001243182.1:c.3713T>C	NP_001230111.1:p.Val1238Ala
XM_005266423.2:c.3950T>C	XP_005266480.1:p.Val1317Ala
XM_005266424.3:c.3950T>C	XP_005266481.1:p.Val1317Ala
XM_005266427.2:c.3812T>C	XP_005266484.1:p.Val1271Ala
XM_005266428.1:c.3794T>C	XP_005266485.1:p.Val1265Ala
XM_005266430.3:c.4046T>C	XP_005266487.1:p.Val1349Ala
XM_005266431.2:c.4010T>C	XP_005266488.1:p.Val1337Ala
XM_005266432.2:c.3560T>C	XP_005266489.1:p.Val1187Ala
XM_006719837.2:c.3950T>C	XP_006719900.1:p.Val1317Ala
XM_006719838.1:c.1862T>C	XP_006719901.1:p.Val621Ala
XM_006719839.1:c.1679T>C	XP_006719902.1:p.Val560Ala
XM_011535117.1:c.3950T>C	XP_011533419.1:p.Val1317Ala
XM_011535118.1:c.3911T>C	XP_011533420.1:p.Val1304Ala
XM_011535119.1:c.3863T>C	XP_011533421.1:p.Val1288Ala
XM_011535120.1:c.3632T>C	XP_011533422.1:p.Val1211Ala
XM_011535121.1:c.3533T>C	XP_011533423.1:p.Val1178Ala
XM_011535122.1:c.2714T>C	XP_011533424.1:p.Val905Ala
XR_941601.1:n.4265T>C
XR_941602.1:n.4265T>C
XR_941603.1:n.4265T>C
XR_941604.1:n.4265T>C
NM_001330578.1:c.3812T>C	NP_001317507.1:p.Val1271Ala
NM_001330579.1:c.3794T>C	NP_001317508.1:p.Val1265Ala
XM_005266424.4:c.3950T>C	XP_005266481.1:p.Val1317Ala
XM_005266430.4:c.4046T>C	XP_005266487.1:p.Val1349Ala
XM_005266431.4:c.4010T>C	XP_005266488.1:p.Val1337Ala
XM_006719837.3:c.3950T>C	XP_006719900.1:p.Val1317Ala
XM_011535117.3:c.3950T>C	XP_011533419.1:p.Val1317Ala
XM_017020627.1:c.3950T>C	XP_016876116.1:p.Val1317Ala
NM_000053.4:c.4046T>C MANE Select	NP_000044.2:p.Val1349Ala
NM_001005918.3:c.3425T>C	NP_001005918.1:p.Val1142Ala
NM_001330579.2:c.3794T>C	NP_001317508.1:p.Val1265Ala
NM_001243182.2:c.3713T>C	NP_001230111.1:p.Val1238Ala
NM_001330578.2:c.3812T>C	NP_001317507.1:p.Val1271Ala