Canonical Allele Identifier: CA388026796

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515352G>T (hg19) ; chr13:g.51941216G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1071C>A	ENSP00000489512.2:n.*1071C>A
ENST00000673864.2:c.*2165C>A	ENSP00000501045.2:n.*2165C>A
ENST00000674147.2:c.2800C>A	ENSP00000500964.2:p.Pro934Thr
ENST00000242839.10:c.3421C>A MANE Select	ENSP00000242839.5:p.Pro1141Thr
ENST00000344297.9:c.2800C>A	ENSP00000342559.5:p.Pro934Thr
ENST00000400366.6:c.3088C>A	ENSP00000383217.3:p.Pro1030Thr
ENST00000448424.7:c.3169C>A	ENSP00000416738.3:p.Pro1057Thr
ENST00000673772.1:c.3187C>A	ENSP00000501168.1:p.Pro1063Thr
ENST00000673867.1:n.3560C>A
ENST00000674126.1:n.3784C>A
ENST00000674147.1:c.2356C>A	ENSP00000500964.1:p.Pro786Thr
ENST00000242839.8:c.3421C>A	ENSP00000242839.4:p.Pro1141Thr
ENST00000344297.8:c.2800C>A	ENSP00000342559.5:p.Pro934Thr
ENST00000400366.5:c.3088C>A	ENSP00000383217.3:p.Pro1030Thr
ENST00000400370.8:c.2131C>A	ENSP00000383221.3:p.Pro711Thr
ENST00000418097.7:c.3226C>A	ENSP00000393343.2:p.Pro1076Thr
ENST00000448424.6:c.3187C>A	ENSP00000416738.2:p.Pro1063Thr
ENST00000634296.1:c.1199C>A
ENST00000634308.1:c.*522C>A	ENSP00000489234.1:n.*522C>A
ENST00000634620.1:n.4165C>A
ENST00000634810.1:n.2766C>A
ENST00000634844.1:c.3277C>A	ENSP00000489398.1:p.Pro1093Thr
NM_000053.3:c.3421C>A	NP_000044.2:p.Pro1141Thr
NM_001005918.2:c.2800C>A	NP_001005918.1:p.Pro934Thr
NM_001243182.1:c.3088C>A	NP_001230111.1:p.Pro1030Thr
XM_005266423.2:c.3325C>A	XP_005266480.1:p.Pro1109Thr
XM_005266424.3:c.3325C>A	XP_005266481.1:p.Pro1109Thr
XM_005266427.2:c.3187C>A	XP_005266484.1:p.Pro1063Thr
XM_005266428.1:c.3169C>A	XP_005266485.1:p.Pro1057Thr
XM_005266430.3:c.3421C>A	XP_005266487.1:p.Pro1141Thr
XM_005266431.2:c.3385C>A	XP_005266488.1:p.Pro1129Thr
XM_005266432.2:c.2935C>A	XP_005266489.1:p.Pro979Thr
XM_006719837.2:c.3325C>A	XP_006719900.1:p.Pro1109Thr
XM_006719838.1:c.1237C>A	XP_006719901.1:p.Pro413Thr
XM_006719839.1:c.1054C>A	XP_006719902.1:p.Pro352Thr
XM_011535117.1:c.3325C>A	XP_011533419.1:p.Pro1109Thr
XM_011535118.1:c.3286C>A	XP_011533420.1:p.Pro1096Thr
XM_011535119.1:c.3238C>A	XP_011533421.1:p.Pro1080Thr
XM_011535120.1:c.3007C>A	XP_011533422.1:p.Pro1003Thr
XM_011535121.1:c.2908C>A	XP_011533423.1:p.Pro970Thr
XM_011535122.1:c.2089C>A	XP_011533424.1:p.Pro697Thr
XR_941601.1:n.3640C>A
XR_941602.1:n.3640C>A
XR_941603.1:n.3640C>A
XR_941604.1:n.3640C>A
NM_001330578.1:c.3187C>A	NP_001317507.1:p.Pro1063Thr
NM_001330579.1:c.3169C>A	NP_001317508.1:p.Pro1057Thr
XM_005266424.4:c.3325C>A	XP_005266481.1:p.Pro1109Thr
XM_005266430.4:c.3421C>A	XP_005266487.1:p.Pro1141Thr
XM_005266431.4:c.3385C>A	XP_005266488.1:p.Pro1129Thr
XM_006719837.3:c.3325C>A	XP_006719900.1:p.Pro1109Thr
XM_011535117.3:c.3325C>A	XP_011533419.1:p.Pro1109Thr
XM_017020627.1:c.3325C>A	XP_016876116.1:p.Pro1109Thr
NM_000053.4:c.3421C>A MANE Select	NP_000044.2:p.Pro1141Thr
NM_001005918.3:c.2800C>A	NP_001005918.1:p.Pro934Thr
NM_001330579.2:c.3169C>A	NP_001317508.1:p.Pro1057Thr
NM_001243182.2:c.3088C>A	NP_001230111.1:p.Pro1030Thr
NM_001330578.2:c.3187C>A	NP_001317507.1:p.Pro1063Thr