Canonical Allele Identifier: CA388026792

Gene: ATP7B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1071C>T	ENSP00000489512.2:n.*1071C>T
ENST00000673864.2:c.*2165C>T	ENSP00000501045.2:n.*2165C>T
ENST00000674147.2:c.2800C>T	ENSP00000500964.2:p.Pro934Ser
ENST00000242839.10:c.3421C>T MANE Select	ENSP00000242839.5:p.Pro1141Ser
ENST00000344297.9:c.2800C>T	ENSP00000342559.5:p.Pro934Ser
ENST00000400366.6:c.3088C>T	ENSP00000383217.3:p.Pro1030Ser
ENST00000448424.7:c.3169C>T	ENSP00000416738.3:p.Pro1057Ser
ENST00000673772.1:c.3187C>T	ENSP00000501168.1:p.Pro1063Ser
ENST00000673867.1:n.3560C>T
ENST00000674126.1:n.3784C>T
ENST00000674147.1:c.2356C>T	ENSP00000500964.1:p.Pro786Ser
ENST00000242839.8:c.3421C>T	ENSP00000242839.4:p.Pro1141Ser
ENST00000344297.8:c.2800C>T	ENSP00000342559.5:p.Pro934Ser
ENST00000400366.5:c.3088C>T	ENSP00000383217.3:p.Pro1030Ser
ENST00000400370.8:c.2131C>T	ENSP00000383221.3:p.Pro711Ser
ENST00000418097.7:c.3226C>T	ENSP00000393343.2:p.Pro1076Ser
ENST00000448424.6:c.3187C>T	ENSP00000416738.2:p.Pro1063Ser
ENST00000634296.1:c.1199C>T
ENST00000634308.1:c.*522C>T	ENSP00000489234.1:n.*522C>T
ENST00000634620.1:n.4165C>T
ENST00000634810.1:n.2766C>T
ENST00000634844.1:c.3277C>T	ENSP00000489398.1:p.Pro1093Ser
NM_000053.3:c.3421C>T	NP_000044.2:p.Pro1141Ser
NM_001005918.2:c.2800C>T	NP_001005918.1:p.Pro934Ser
NM_001243182.1:c.3088C>T	NP_001230111.1:p.Pro1030Ser
XM_005266423.2:c.3325C>T	XP_005266480.1:p.Pro1109Ser
XM_005266424.3:c.3325C>T	XP_005266481.1:p.Pro1109Ser
XM_005266427.2:c.3187C>T	XP_005266484.1:p.Pro1063Ser
XM_005266428.1:c.3169C>T	XP_005266485.1:p.Pro1057Ser
XM_005266430.3:c.3421C>T	XP_005266487.1:p.Pro1141Ser
XM_005266431.2:c.3385C>T	XP_005266488.1:p.Pro1129Ser
XM_005266432.2:c.2935C>T	XP_005266489.1:p.Pro979Ser
XM_006719837.2:c.3325C>T	XP_006719900.1:p.Pro1109Ser
XM_006719838.1:c.1237C>T	XP_006719901.1:p.Pro413Ser
XM_006719839.1:c.1054C>T	XP_006719902.1:p.Pro352Ser
XM_011535117.1:c.3325C>T	XP_011533419.1:p.Pro1109Ser
XM_011535118.1:c.3286C>T	XP_011533420.1:p.Pro1096Ser
XM_011535119.1:c.3238C>T	XP_011533421.1:p.Pro1080Ser
XM_011535120.1:c.3007C>T	XP_011533422.1:p.Pro1003Ser
XM_011535121.1:c.2908C>T	XP_011533423.1:p.Pro970Ser
XM_011535122.1:c.2089C>T	XP_011533424.1:p.Pro697Ser
XR_941601.1:n.3640C>T
XR_941602.1:n.3640C>T
XR_941603.1:n.3640C>T
XR_941604.1:n.3640C>T
NM_001330578.1:c.3187C>T	NP_001317507.1:p.Pro1063Ser
NM_001330579.1:c.3169C>T	NP_001317508.1:p.Pro1057Ser
XM_005266424.4:c.3325C>T	XP_005266481.1:p.Pro1109Ser
XM_005266430.4:c.3421C>T	XP_005266487.1:p.Pro1141Ser
XM_005266431.4:c.3385C>T	XP_005266488.1:p.Pro1129Ser
XM_006719837.3:c.3325C>T	XP_006719900.1:p.Pro1109Ser
XM_011535117.3:c.3325C>T	XP_011533419.1:p.Pro1109Ser
XM_017020627.1:c.3325C>T	XP_016876116.1:p.Pro1109Ser
NM_000053.4:c.3421C>T MANE Select	NP_000044.2:p.Pro1141Ser
NM_001005918.3:c.2800C>T	NP_001005918.1:p.Pro934Ser
NM_001330579.2:c.3169C>T	NP_001317508.1:p.Pro1057Ser
NM_001243182.2:c.3088C>T	NP_001230111.1:p.Pro1030Ser
NM_001330578.2:c.3187C>T	NP_001317507.1:p.Pro1063Ser