Canonical Allele Identifier: CA388032068

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946343-C-G
• MyVariant Identifiers: chr13:g.52520479C>G (hg19) ; chr13:g.51946343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946343C>G , CM000675.2:g.51946343C>G	GRCh38
NC_000013.10:g.52520479C>G , CM000675.1:g.52520479C>G	GRCh37
NC_000013.9:g.51418480C>G	NCBI36
NG_008806.1:g.70152G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*834G>C	ENSP00000489512.2:n.*834G>C
ENST00000673864.2:c.*1745G>C	ENSP00000501045.2:n.*1745G>C
ENST00000674147.2:c.2380G>C	ENSP00000500964.2:p.Val794Leu
ENST00000242839.10:c.3001G>C MANE Select	ENSP00000242839.5:p.Val1001Leu
ENST00000344297.9:c.2380G>C	ENSP00000342559.5:p.Val794Leu
ENST00000400366.6:c.2668G>C	ENSP00000383217.3:p.Val890Leu
ENST00000448424.7:c.2749G>C	ENSP00000416738.3:p.Val917Leu
ENST00000673772.1:c.2767G>C	ENSP00000501168.1:p.Val923Leu
ENST00000673867.1:n.1148G>C
ENST00000674126.1:n.3364G>C
ENST00000674147.1:c.1936G>C	ENSP00000500964.1:p.Val646Leu
ENST00000242839.8:c.3001G>C	ENSP00000242839.4:p.Val1001Leu
ENST00000344297.8:c.2380G>C	ENSP00000342559.5:p.Val794Leu
ENST00000400366.5:c.2668G>C	ENSP00000383217.3:p.Val890Leu
ENST00000400370.8:c.1711G>C	ENSP00000383221.3:p.Val571Leu
ENST00000418097.7:c.2866-2052G>C	ENSP00000393343.2:n.2866-2052G>C
ENST00000448424.6:c.2767G>C	ENSP00000416738.2:p.Val923Leu
ENST00000466629.1:n.221G>C
ENST00000634296.1:c.962G>C
ENST00000634308.1:c.*102G>C	ENSP00000489234.1:n.*102G>C
ENST00000634620.1:n.3745G>C
ENST00000634810.1:n.2346G>C
ENST00000634844.1:c.2857G>C	ENSP00000489398.1:p.Val953Leu
ENST00000635406.1:n.347G>C
NM_000053.3:c.3001G>C	NP_000044.2:p.Val1001Leu
NM_001005918.2:c.2380G>C	NP_001005918.1:p.Val794Leu
NM_001243182.1:c.2668G>C	NP_001230111.1:p.Val890Leu
XM_005266423.2:c.2905G>C	XP_005266480.1:p.Val969Leu
XM_005266424.3:c.2905G>C	XP_005266481.1:p.Val969Leu
XM_005266427.2:c.2767G>C	XP_005266484.1:p.Val923Leu
XM_005266428.1:c.2749G>C	XP_005266485.1:p.Val917Leu
XM_005266430.3:c.3001G>C	XP_005266487.1:p.Val1001Leu
XM_005266431.2:c.2965G>C	XP_005266488.1:p.Val989Leu
XM_005266432.2:c.2515G>C	XP_005266489.1:p.Val839Leu
XM_006719837.2:c.2905G>C	XP_006719900.1:p.Val969Leu
XM_006719838.1:c.817G>C	XP_006719901.1:p.Val273Leu
XM_006719839.1:c.817G>C	XP_006719902.1:p.Val273Leu
XM_011535117.1:c.2905G>C	XP_011533419.1:p.Val969Leu
XM_011535118.1:c.2866G>C	XP_011533420.1:p.Val956Leu
XM_011535119.1:c.3001G>C	XP_011533421.1:p.Val1001Leu
XM_011535120.1:c.2587G>C	XP_011533422.1:p.Val863Leu
XM_011535121.1:c.2730+3664G>C	XP_011533423.1:n.2730+3664G>C
XM_011535122.1:c.1669G>C	XP_011533424.1:p.Val557Leu
XR_941601.1:n.3220G>C
XR_941602.1:n.3220G>C
XR_941603.1:n.3220G>C
XR_941604.1:n.3220G>C
NM_001330578.1:c.2767G>C	NP_001317507.1:p.Val923Leu
NM_001330579.1:c.2749G>C	NP_001317508.1:p.Val917Leu
XM_005266424.4:c.2905G>C	XP_005266481.1:p.Val969Leu
XM_005266430.4:c.3001G>C	XP_005266487.1:p.Val1001Leu
XM_005266431.4:c.2965G>C	XP_005266488.1:p.Val989Leu
XM_006719837.3:c.2905G>C	XP_006719900.1:p.Val969Leu
XM_011535117.3:c.2905G>C	XP_011533419.1:p.Val969Leu
XM_017020627.1:c.2905G>C	XP_016876116.1:p.Val969Leu
NM_000053.4:c.3001G>C MANE Select	NP_000044.2:p.Val1001Leu
NM_001005918.3:c.2380G>C	NP_001005918.1:p.Val794Leu
NM_001330579.2:c.2749G>C	NP_001317508.1:p.Val917Leu
NM_001243182.2:c.2668G>C	NP_001230111.1:p.Val890Leu
NM_001330578.2:c.2767G>C	NP_001317507.1:p.Val923Leu