Canonical Allele Identifier: CA388030064

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518322C>G (hg19) ; chr13:g.51944186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944186C>G , CM000675.2:g.51944186C>G	GRCh38
NC_000013.10:g.52518322C>G , CM000675.1:g.52518322C>G	GRCh37
NC_000013.9:g.51416323C>G	NCBI36
NG_008806.1:g.72309G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1632G>C	ENSP00000489512.2:n.*894-1632G>C
ENST00000673864.2:c.*1910G>C	ENSP00000501045.2:n.*1910G>C
ENST00000674147.2:c.2545G>C	ENSP00000500964.2:p.Val849Leu
ENST00000242839.10:c.3166G>C MANE Select	ENSP00000242839.5:p.Val1056Leu
ENST00000344297.9:c.2545G>C	ENSP00000342559.5:p.Val849Leu
ENST00000400366.6:c.2833G>C	ENSP00000383217.3:p.Val945Leu
ENST00000448424.7:c.2914G>C	ENSP00000416738.3:p.Val972Leu
ENST00000673772.1:c.2932G>C	ENSP00000501168.1:p.Val978Leu
ENST00000673867.1:n.3305G>C
ENST00000674126.1:n.3529G>C
ENST00000674147.1:c.2101G>C	ENSP00000500964.1:p.Val701Leu
ENST00000242839.8:c.3166G>C	ENSP00000242839.4:p.Val1056Leu
ENST00000344297.8:c.2545G>C	ENSP00000342559.5:p.Val849Leu
ENST00000400366.5:c.2833G>C	ENSP00000383217.3:p.Val945Leu
ENST00000400370.8:c.1876G>C	ENSP00000383221.3:p.Val626Leu
ENST00000418097.7:c.2971G>C	ENSP00000393343.2:p.Val991Leu
ENST00000448424.6:c.2932G>C	ENSP00000416738.2:p.Val978Leu
ENST00000466629.1:n.386G>C
ENST00000634296.1:c.1022-1632G>C
ENST00000634308.1:c.*267G>C	ENSP00000489234.1:n.*267G>C
ENST00000634620.1:n.3910G>C
ENST00000634810.1:n.2511G>C
ENST00000634844.1:c.3022G>C	ENSP00000489398.1:p.Val1008Leu
NM_000053.3:c.3166G>C	NP_000044.2:p.Val1056Leu
NM_001005918.2:c.2545G>C	NP_001005918.1:p.Val849Leu
NM_001243182.1:c.2833G>C	NP_001230111.1:p.Val945Leu
XM_005266423.2:c.3070G>C	XP_005266480.1:p.Val1024Leu
XM_005266424.3:c.3070G>C	XP_005266481.1:p.Val1024Leu
XM_005266427.2:c.2932G>C	XP_005266484.1:p.Val978Leu
XM_005266428.1:c.2914G>C	XP_005266485.1:p.Val972Leu
XM_005266430.3:c.3166G>C	XP_005266487.1:p.Val1056Leu
XM_005266431.2:c.3130G>C	XP_005266488.1:p.Val1044Leu
XM_005266432.2:c.2680G>C	XP_005266489.1:p.Val894Leu
XM_006719837.2:c.3070G>C	XP_006719900.1:p.Val1024Leu
XM_006719838.1:c.982G>C	XP_006719901.1:p.Val328Leu
XM_006719839.1:c.877-1632G>C	XP_006719902.1:n.877-1632G>C
XM_011535117.1:c.3070G>C	XP_011533419.1:p.Val1024Leu
XM_011535118.1:c.3031G>C	XP_011533420.1:p.Val1011Leu
XM_011535119.1:c.3061-1632G>C	XP_011533421.1:n.3061-1632G>C
XM_011535120.1:c.2752G>C	XP_011533422.1:p.Val918Leu
XM_011535121.1:c.2731-1632G>C	XP_011533423.1:n.2731-1632G>C
XM_011535122.1:c.1834G>C	XP_011533424.1:p.Val612Leu
XR_941601.1:n.3385G>C
XR_941602.1:n.3385G>C
XR_941603.1:n.3385G>C
XR_941604.1:n.3385G>C
NM_001330578.1:c.2932G>C	NP_001317507.1:p.Val978Leu
NM_001330579.1:c.2914G>C	NP_001317508.1:p.Val972Leu
XM_005266424.4:c.3070G>C	XP_005266481.1:p.Val1024Leu
XM_005266430.4:c.3166G>C	XP_005266487.1:p.Val1056Leu
XM_005266431.4:c.3130G>C	XP_005266488.1:p.Val1044Leu
XM_006719837.3:c.3070G>C	XP_006719900.1:p.Val1024Leu
XM_011535117.3:c.3070G>C	XP_011533419.1:p.Val1024Leu
XM_017020627.1:c.3070G>C	XP_016876116.1:p.Val1024Leu
NM_000053.4:c.3166G>C MANE Select	NP_000044.2:p.Val1056Leu
NM_001005918.3:c.2545G>C	NP_001005918.1:p.Val849Leu
NM_001330579.2:c.2914G>C	NP_001317508.1:p.Val972Leu
NM_001243182.2:c.2833G>C	NP_001230111.1:p.Val945Leu
NM_001330578.2:c.2932G>C	NP_001317507.1:p.Val978Leu