Canonical Allele Identifier: CA16621524

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 424618
• ClinVar RCV Id: RCV000487452
• dbSNP Id: rs1064797072
• MyVariant Identifiers: chr13:g.52518252C>A (hg19) ; chr13:g.51944116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944116C>A , CM000675.2:g.51944116C>A	GRCh38
NC_000013.10:g.52518252C>A , CM000675.1:g.52518252C>A	GRCh37
NC_000013.9:g.51416253C>A	NCBI36
NG_008806.1:g.72379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1562G>T	ENSP00000489512.2:n.*894-1562G>T
ENST00000673864.2:c.*1980G>T	ENSP00000501045.2:n.*1980G>T
ENST00000674147.2:c.2615G>T	ENSP00000500964.2:p.Cys872Phe
ENST00000242839.10:c.3236G>T MANE Select	ENSP00000242839.5:p.Cys1079Phe
ENST00000344297.9:c.2615G>T	ENSP00000342559.5:p.Cys872Phe
ENST00000400366.6:c.2903G>T	ENSP00000383217.3:p.Cys968Phe
ENST00000448424.7:c.2984G>T	ENSP00000416738.3:p.Cys995Phe
ENST00000673772.1:c.3002G>T	ENSP00000501168.1:p.Cys1001Phe
ENST00000673867.1:n.3375G>T
ENST00000674126.1:n.3599G>T
ENST00000674147.1:c.2171G>T	ENSP00000500964.1:p.Cys724Phe
ENST00000242839.8:c.3236G>T	ENSP00000242839.4:p.Cys1079Phe
ENST00000344297.8:c.2615G>T	ENSP00000342559.5:p.Cys872Phe
ENST00000400366.5:c.2903G>T	ENSP00000383217.3:p.Cys968Phe
ENST00000400370.8:c.1946G>T	ENSP00000383221.3:p.Cys649Phe
ENST00000418097.7:c.3041G>T	ENSP00000393343.2:p.Cys1014Phe
ENST00000448424.6:c.3002G>T	ENSP00000416738.2:p.Cys1001Phe
ENST00000466629.1:n.456G>T
ENST00000634296.1:c.1022-1562G>T
ENST00000634308.1:c.*337G>T	ENSP00000489234.1:n.*337G>T
ENST00000634620.1:n.3980G>T
ENST00000634810.1:n.2581G>T
ENST00000634844.1:c.3092G>T	ENSP00000489398.1:p.Cys1031Phe
NM_000053.3:c.3236G>T	NP_000044.2:p.Cys1079Phe
NM_001005918.2:c.2615G>T	NP_001005918.1:p.Cys872Phe
NM_001243182.1:c.2903G>T	NP_001230111.1:p.Cys968Phe
XM_005266423.2:c.3140G>T	XP_005266480.1:p.Cys1047Phe
XM_005266424.3:c.3140G>T	XP_005266481.1:p.Cys1047Phe
XM_005266427.2:c.3002G>T	XP_005266484.1:p.Cys1001Phe
XM_005266428.1:c.2984G>T	XP_005266485.1:p.Cys995Phe
XM_005266430.3:c.3236G>T	XP_005266487.1:p.Cys1079Phe
XM_005266431.2:c.3200G>T	XP_005266488.1:p.Cys1067Phe
XM_005266432.2:c.2750G>T	XP_005266489.1:p.Cys917Phe
XM_006719837.2:c.3140G>T	XP_006719900.1:p.Cys1047Phe
XM_006719838.1:c.1052G>T	XP_006719901.1:p.Cys351Phe
XM_006719839.1:c.877-1562G>T	XP_006719902.1:n.877-1562G>T
XM_011535117.1:c.3140G>T	XP_011533419.1:p.Cys1047Phe
XM_011535118.1:c.3101G>T	XP_011533420.1:p.Cys1034Phe
XM_011535119.1:c.3061-1562G>T	XP_011533421.1:n.3061-1562G>T
XM_011535120.1:c.2822G>T	XP_011533422.1:p.Cys941Phe
XM_011535121.1:c.2731-1562G>T	XP_011533423.1:n.2731-1562G>T
XM_011535122.1:c.1904G>T	XP_011533424.1:p.Cys635Phe
XR_941601.1:n.3455G>T
XR_941602.1:n.3455G>T
XR_941603.1:n.3455G>T
XR_941604.1:n.3455G>T
NM_001330578.1:c.3002G>T	NP_001317507.1:p.Cys1001Phe
NM_001330579.1:c.2984G>T	NP_001317508.1:p.Cys995Phe
XM_005266424.4:c.3140G>T	XP_005266481.1:p.Cys1047Phe
XM_005266430.4:c.3236G>T	XP_005266487.1:p.Cys1079Phe
XM_005266431.4:c.3200G>T	XP_005266488.1:p.Cys1067Phe
XM_006719837.3:c.3140G>T	XP_006719900.1:p.Cys1047Phe
XM_011535117.3:c.3140G>T	XP_011533419.1:p.Cys1047Phe
XM_017020627.1:c.3140G>T	XP_016876116.1:p.Cys1047Phe
NM_000053.4:c.3236G>T MANE Select	NP_000044.2:p.Cys1079Phe
NM_001005918.3:c.2615G>T	NP_001005918.1:p.Cys872Phe
NM_001330579.2:c.2984G>T	NP_001317508.1:p.Cys995Phe
NM_001243182.2:c.2903G>T	NP_001230111.1:p.Cys968Phe
NM_001330578.2:c.3002G>T	NP_001317507.1:p.Cys1001Phe