Canonical Allele Identifier: CA388026129

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3074582
• ClinVar RCV Id: RCV004014116
• MyVariant Identifiers: chr13:g.52515252A>T (hg19) ; chr13:g.51941116A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941116A>T , CM000675.2:g.51941116A>T	GRCh38
NC_000013.10:g.52515252A>T , CM000675.1:g.52515252A>T	GRCh37
NC_000013.9:g.51413253A>T	NCBI36
NG_008806.1:g.75379T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1171T>A	ENSP00000489512.2:n.*1171T>A
ENST00000673864.2:c.*2265T>A	ENSP00000501045.2:n.*2265T>A
ENST00000674147.2:c.2900T>A	ENSP00000500964.2:p.Met967Lys
ENST00000242839.10:c.3521T>A MANE Select	ENSP00000242839.5:p.Met1174Lys
ENST00000344297.9:c.2900T>A	ENSP00000342559.5:p.Met967Lys
ENST00000400366.6:c.3188T>A	ENSP00000383217.3:p.Met1063Lys
ENST00000448424.7:c.3269T>A	ENSP00000416738.3:p.Met1090Lys
ENST00000673772.1:c.3287T>A	ENSP00000501168.1:p.Met1096Lys
ENST00000673867.1:n.3660T>A
ENST00000674126.1:n.3884T>A
ENST00000674147.1:c.2456T>A	ENSP00000500964.1:p.Met819Lys
ENST00000242839.8:c.3521T>A	ENSP00000242839.4:p.Met1174Lys
ENST00000344297.8:c.2900T>A	ENSP00000342559.5:p.Met967Lys
ENST00000400366.5:c.3188T>A	ENSP00000383217.3:p.Met1063Lys
ENST00000400370.8:c.2231T>A	ENSP00000383221.3:p.Met744Lys
ENST00000418097.7:c.3326T>A	ENSP00000393343.2:p.Met1109Lys
ENST00000448424.6:c.3287T>A	ENSP00000416738.2:p.Met1096Lys
ENST00000634296.1:c.1299T>A
ENST00000634308.1:c.*622T>A	ENSP00000489234.1:n.*622T>A
ENST00000634620.1:n.4265T>A
ENST00000634810.1:n.2866T>A
ENST00000634844.1:c.3377T>A	ENSP00000489398.1:p.Met1126Lys
NM_000053.3:c.3521T>A	NP_000044.2:p.Met1174Lys
NM_001005918.2:c.2900T>A	NP_001005918.1:p.Met967Lys
NM_001243182.1:c.3188T>A	NP_001230111.1:p.Met1063Lys
XM_005266423.2:c.3425T>A	XP_005266480.1:p.Met1142Lys
XM_005266424.3:c.3425T>A	XP_005266481.1:p.Met1142Lys
XM_005266427.2:c.3287T>A	XP_005266484.1:p.Met1096Lys
XM_005266428.1:c.3269T>A	XP_005266485.1:p.Met1090Lys
XM_005266430.3:c.3521T>A	XP_005266487.1:p.Met1174Lys
XM_005266431.2:c.3485T>A	XP_005266488.1:p.Met1162Lys
XM_005266432.2:c.3035T>A	XP_005266489.1:p.Met1012Lys
XM_006719837.2:c.3425T>A	XP_006719900.1:p.Met1142Lys
XM_006719838.1:c.1337T>A	XP_006719901.1:p.Met446Lys
XM_006719839.1:c.1154T>A	XP_006719902.1:p.Met385Lys
XM_011535117.1:c.3425T>A	XP_011533419.1:p.Met1142Lys
XM_011535118.1:c.3386T>A	XP_011533420.1:p.Met1129Lys
XM_011535119.1:c.3338T>A	XP_011533421.1:p.Met1113Lys
XM_011535120.1:c.3107T>A	XP_011533422.1:p.Met1036Lys
XM_011535121.1:c.3008T>A	XP_011533423.1:p.Met1003Lys
XM_011535122.1:c.2189T>A	XP_011533424.1:p.Met730Lys
XR_941601.1:n.3740T>A
XR_941602.1:n.3740T>A
XR_941603.1:n.3740T>A
XR_941604.1:n.3740T>A
NM_001330578.1:c.3287T>A	NP_001317507.1:p.Met1096Lys
NM_001330579.1:c.3269T>A	NP_001317508.1:p.Met1090Lys
XM_005266424.4:c.3425T>A	XP_005266481.1:p.Met1142Lys
XM_005266430.4:c.3521T>A	XP_005266487.1:p.Met1174Lys
XM_005266431.4:c.3485T>A	XP_005266488.1:p.Met1162Lys
XM_006719837.3:c.3425T>A	XP_006719900.1:p.Met1142Lys
XM_011535117.3:c.3425T>A	XP_011533419.1:p.Met1142Lys
XM_017020627.1:c.3425T>A	XP_016876116.1:p.Met1142Lys
NM_000053.4:c.3521T>A MANE Select	NP_000044.2:p.Met1174Lys
NM_001005918.3:c.2900T>A	NP_001005918.1:p.Met967Lys
NM_001330579.2:c.3269T>A	NP_001317508.1:p.Met1090Lys
NM_001243182.2:c.3188T>A	NP_001230111.1:p.Met1063Lys
NM_001330578.2:c.3287T>A	NP_001317507.1:p.Met1096Lys