Canonical Allele Identifier: CA388026794

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957311433
• gnomAD v3: 13-51941216-G-C
• gnomAD v4: 13-51941216-G-C
• MyVariant Identifiers: chr13:g.52515352G>C (hg19) ; chr13:g.51941216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941216G>C , CM000675.2:g.51941216G>C	GRCh38
NC_000013.10:g.52515352G>C , CM000675.1:g.52515352G>C	GRCh37
NC_000013.9:g.51413353G>C	NCBI36
NG_008806.1:g.75279C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1071C>G	ENSP00000489512.2:n.*1071C>G
ENST00000673864.2:c.*2165C>G	ENSP00000501045.2:n.*2165C>G
ENST00000674147.2:c.2800C>G	ENSP00000500964.2:p.Pro934Ala
ENST00000242839.10:c.3421C>G MANE Select	ENSP00000242839.5:p.Pro1141Ala
ENST00000344297.9:c.2800C>G	ENSP00000342559.5:p.Pro934Ala
ENST00000400366.6:c.3088C>G	ENSP00000383217.3:p.Pro1030Ala
ENST00000448424.7:c.3169C>G	ENSP00000416738.3:p.Pro1057Ala
ENST00000673772.1:c.3187C>G	ENSP00000501168.1:p.Pro1063Ala
ENST00000673867.1:n.3560C>G
ENST00000674126.1:n.3784C>G
ENST00000674147.1:c.2356C>G	ENSP00000500964.1:p.Pro786Ala
ENST00000242839.8:c.3421C>G	ENSP00000242839.4:p.Pro1141Ala
ENST00000344297.8:c.2800C>G	ENSP00000342559.5:p.Pro934Ala
ENST00000400366.5:c.3088C>G	ENSP00000383217.3:p.Pro1030Ala
ENST00000400370.8:c.2131C>G	ENSP00000383221.3:p.Pro711Ala
ENST00000418097.7:c.3226C>G	ENSP00000393343.2:p.Pro1076Ala
ENST00000448424.6:c.3187C>G	ENSP00000416738.2:p.Pro1063Ala
ENST00000634296.1:c.1199C>G
ENST00000634308.1:c.*522C>G	ENSP00000489234.1:n.*522C>G
ENST00000634620.1:n.4165C>G
ENST00000634810.1:n.2766C>G
ENST00000634844.1:c.3277C>G	ENSP00000489398.1:p.Pro1093Ala
NM_000053.3:c.3421C>G	NP_000044.2:p.Pro1141Ala
NM_001005918.2:c.2800C>G	NP_001005918.1:p.Pro934Ala
NM_001243182.1:c.3088C>G	NP_001230111.1:p.Pro1030Ala
XM_005266423.2:c.3325C>G	XP_005266480.1:p.Pro1109Ala
XM_005266424.3:c.3325C>G	XP_005266481.1:p.Pro1109Ala
XM_005266427.2:c.3187C>G	XP_005266484.1:p.Pro1063Ala
XM_005266428.1:c.3169C>G	XP_005266485.1:p.Pro1057Ala
XM_005266430.3:c.3421C>G	XP_005266487.1:p.Pro1141Ala
XM_005266431.2:c.3385C>G	XP_005266488.1:p.Pro1129Ala
XM_005266432.2:c.2935C>G	XP_005266489.1:p.Pro979Ala
XM_006719837.2:c.3325C>G	XP_006719900.1:p.Pro1109Ala
XM_006719838.1:c.1237C>G	XP_006719901.1:p.Pro413Ala
XM_006719839.1:c.1054C>G	XP_006719902.1:p.Pro352Ala
XM_011535117.1:c.3325C>G	XP_011533419.1:p.Pro1109Ala
XM_011535118.1:c.3286C>G	XP_011533420.1:p.Pro1096Ala
XM_011535119.1:c.3238C>G	XP_011533421.1:p.Pro1080Ala
XM_011535120.1:c.3007C>G	XP_011533422.1:p.Pro1003Ala
XM_011535121.1:c.2908C>G	XP_011533423.1:p.Pro970Ala
XM_011535122.1:c.2089C>G	XP_011533424.1:p.Pro697Ala
XR_941601.1:n.3640C>G
XR_941602.1:n.3640C>G
XR_941603.1:n.3640C>G
XR_941604.1:n.3640C>G
NM_001330578.1:c.3187C>G	NP_001317507.1:p.Pro1063Ala
NM_001330579.1:c.3169C>G	NP_001317508.1:p.Pro1057Ala
XM_005266424.4:c.3325C>G	XP_005266481.1:p.Pro1109Ala
XM_005266430.4:c.3421C>G	XP_005266487.1:p.Pro1141Ala
XM_005266431.4:c.3385C>G	XP_005266488.1:p.Pro1129Ala
XM_006719837.3:c.3325C>G	XP_006719900.1:p.Pro1109Ala
XM_011535117.3:c.3325C>G	XP_011533419.1:p.Pro1109Ala
XM_017020627.1:c.3325C>G	XP_016876116.1:p.Pro1109Ala
NM_000053.4:c.3421C>G MANE Select	NP_000044.2:p.Pro1141Ala
NM_001005918.3:c.2800C>G	NP_001005918.1:p.Pro934Ala
NM_001330579.2:c.3169C>G	NP_001317508.1:p.Pro1057Ala
NM_001243182.2:c.3088C>G	NP_001230111.1:p.Pro1030Ala
NM_001330578.2:c.3187C>G	NP_001317507.1:p.Pro1063Ala