Canonical Allele Identifier: CA388026279

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2417599
• ClinVar RCV Id: RCV003115068
• dbSNP Id: rs2138778908
• gnomAD v4: 13-51941130-C-T
• MyVariant Identifiers: chr13:g.52515266C>T (hg19) ; chr13:g.51941130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941130C>T , CM000675.2:g.51941130C>T	GRCh38
NC_000013.10:g.52515266C>T , CM000675.1:g.52515266C>T	GRCh37
NC_000013.9:g.51413267C>T	NCBI36
NG_008806.1:g.75365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1157G>A	ENSP00000489512.2:n.*1157G>A
ENST00000673864.2:c.*2251G>A	ENSP00000501045.2:n.*2251G>A
ENST00000674147.2:c.2886G>A	ENSP00000500964.2:p.Met962Ile
ENST00000242839.10:c.3507G>A MANE Select	ENSP00000242839.5:p.Met1169Ile
ENST00000344297.9:c.2886G>A	ENSP00000342559.5:p.Met962Ile
ENST00000400366.6:c.3174G>A	ENSP00000383217.3:p.Met1058Ile
ENST00000448424.7:c.3255G>A	ENSP00000416738.3:p.Met1085Ile
ENST00000673772.1:c.3273G>A	ENSP00000501168.1:p.Met1091Ile
ENST00000673867.1:n.3646G>A
ENST00000674126.1:n.3870G>A
ENST00000674147.1:c.2442G>A	ENSP00000500964.1:p.Met814Ile
ENST00000242839.8:c.3507G>A	ENSP00000242839.4:p.Met1169Ile
ENST00000344297.8:c.2886G>A	ENSP00000342559.5:p.Met962Ile
ENST00000400366.5:c.3174G>A	ENSP00000383217.3:p.Met1058Ile
ENST00000400370.8:c.2217G>A	ENSP00000383221.3:p.Met739Ile
ENST00000418097.7:c.3312G>A	ENSP00000393343.2:p.Met1104Ile
ENST00000448424.6:c.3273G>A	ENSP00000416738.2:p.Met1091Ile
ENST00000634296.1:c.1285G>A
ENST00000634308.1:c.*608G>A	ENSP00000489234.1:n.*608G>A
ENST00000634620.1:n.4251G>A
ENST00000634810.1:n.2852G>A
ENST00000634844.1:c.3363G>A	ENSP00000489398.1:p.Met1121Ile
NM_000053.3:c.3507G>A	NP_000044.2:p.Met1169Ile
NM_001005918.2:c.2886G>A	NP_001005918.1:p.Met962Ile
NM_001243182.1:c.3174G>A	NP_001230111.1:p.Met1058Ile
XM_005266423.2:c.3411G>A	XP_005266480.1:p.Met1137Ile
XM_005266424.3:c.3411G>A	XP_005266481.1:p.Met1137Ile
XM_005266427.2:c.3273G>A	XP_005266484.1:p.Met1091Ile
XM_005266428.1:c.3255G>A	XP_005266485.1:p.Met1085Ile
XM_005266430.3:c.3507G>A	XP_005266487.1:p.Met1169Ile
XM_005266431.2:c.3471G>A	XP_005266488.1:p.Met1157Ile
XM_005266432.2:c.3021G>A	XP_005266489.1:p.Met1007Ile
XM_006719837.2:c.3411G>A	XP_006719900.1:p.Met1137Ile
XM_006719838.1:c.1323G>A	XP_006719901.1:p.Met441Ile
XM_006719839.1:c.1140G>A	XP_006719902.1:p.Met380Ile
XM_011535117.1:c.3411G>A	XP_011533419.1:p.Met1137Ile
XM_011535118.1:c.3372G>A	XP_011533420.1:p.Met1124Ile
XM_011535119.1:c.3324G>A	XP_011533421.1:p.Met1108Ile
XM_011535120.1:c.3093G>A	XP_011533422.1:p.Met1031Ile
XM_011535121.1:c.2994G>A	XP_011533423.1:p.Met998Ile
XM_011535122.1:c.2175G>A	XP_011533424.1:p.Met725Ile
XR_941601.1:n.3726G>A
XR_941602.1:n.3726G>A
XR_941603.1:n.3726G>A
XR_941604.1:n.3726G>A
NM_001330578.1:c.3273G>A	NP_001317507.1:p.Met1091Ile
NM_001330579.1:c.3255G>A	NP_001317508.1:p.Met1085Ile
XM_005266424.4:c.3411G>A	XP_005266481.1:p.Met1137Ile
XM_005266430.4:c.3507G>A	XP_005266487.1:p.Met1169Ile
XM_005266431.4:c.3471G>A	XP_005266488.1:p.Met1157Ile
XM_006719837.3:c.3411G>A	XP_006719900.1:p.Met1137Ile
XM_011535117.3:c.3411G>A	XP_011533419.1:p.Met1137Ile
XM_017020627.1:c.3411G>A	XP_016876116.1:p.Met1137Ile
NM_000053.4:c.3507G>A MANE Select	NP_000044.2:p.Met1169Ile
NM_001005918.3:c.2886G>A	NP_001005918.1:p.Met962Ile
NM_001330579.2:c.3255G>A	NP_001317508.1:p.Met1085Ile
NM_001243182.2:c.3174G>A	NP_001230111.1:p.Met1058Ile
NM_001330578.2:c.3273G>A	NP_001317507.1:p.Met1091Ile