Canonical Allele Identifier: CA388030406

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518381A>G (hg19) ; chr13:g.51944245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944245A>G , CM000675.2:g.51944245A>G	GRCh38
NC_000013.10:g.52518381A>G , CM000675.1:g.52518381A>G	GRCh37
NC_000013.9:g.51416382A>G	NCBI36
NG_008806.1:g.72250T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1691T>C	ENSP00000489512.2:n.*894-1691T>C
ENST00000673864.2:c.*1851T>C	ENSP00000501045.2:n.*1851T>C
ENST00000674147.2:c.2486T>C	ENSP00000500964.2:p.Val829Ala
ENST00000242839.10:c.3107T>C MANE Select	ENSP00000242839.5:p.Val1036Ala
ENST00000344297.9:c.2486T>C	ENSP00000342559.5:p.Val829Ala
ENST00000400366.6:c.2774T>C	ENSP00000383217.3:p.Val925Ala
ENST00000448424.7:c.2855T>C	ENSP00000416738.3:p.Val952Ala
ENST00000673772.1:c.2873T>C	ENSP00000501168.1:p.Val958Ala
ENST00000673867.1:n.3246T>C
ENST00000674126.1:n.3470T>C
ENST00000674147.1:c.2042T>C	ENSP00000500964.1:p.Val681Ala
ENST00000242839.8:c.3107T>C	ENSP00000242839.4:p.Val1036Ala
ENST00000344297.8:c.2486T>C	ENSP00000342559.5:p.Val829Ala
ENST00000400366.5:c.2774T>C	ENSP00000383217.3:p.Val925Ala
ENST00000400370.8:c.1817T>C	ENSP00000383221.3:p.Val606Ala
ENST00000418097.7:c.2912T>C	ENSP00000393343.2:p.Val971Ala
ENST00000448424.6:c.2873T>C	ENSP00000416738.2:p.Val958Ala
ENST00000466629.1:n.327T>C
ENST00000634296.1:c.1022-1691T>C
ENST00000634308.1:c.*208T>C	ENSP00000489234.1:n.*208T>C
ENST00000634620.1:n.3851T>C
ENST00000634810.1:n.2452T>C
ENST00000634844.1:c.2963T>C	ENSP00000489398.1:p.Val988Ala
ENST00000635406.1:n.453T>C
NM_000053.3:c.3107T>C	NP_000044.2:p.Val1036Ala
NM_001005918.2:c.2486T>C	NP_001005918.1:p.Val829Ala
NM_001243182.1:c.2774T>C	NP_001230111.1:p.Val925Ala
XM_005266423.2:c.3011T>C	XP_005266480.1:p.Val1004Ala
XM_005266424.3:c.3011T>C	XP_005266481.1:p.Val1004Ala
XM_005266427.2:c.2873T>C	XP_005266484.1:p.Val958Ala
XM_005266428.1:c.2855T>C	XP_005266485.1:p.Val952Ala
XM_005266430.3:c.3107T>C	XP_005266487.1:p.Val1036Ala
XM_005266431.2:c.3071T>C	XP_005266488.1:p.Val1024Ala
XM_005266432.2:c.2621T>C	XP_005266489.1:p.Val874Ala
XM_006719837.2:c.3011T>C	XP_006719900.1:p.Val1004Ala
XM_006719838.1:c.923T>C	XP_006719901.1:p.Val308Ala
XM_006719839.1:c.877-1691T>C	XP_006719902.1:n.877-1691T>C
XM_011535117.1:c.3011T>C	XP_011533419.1:p.Val1004Ala
XM_011535118.1:c.2972T>C	XP_011533420.1:p.Val991Ala
XM_011535119.1:c.3061-1691T>C	XP_011533421.1:n.3061-1691T>C
XM_011535120.1:c.2693T>C	XP_011533422.1:p.Val898Ala
XM_011535121.1:c.2731-1691T>C	XP_011533423.1:n.2731-1691T>C
XM_011535122.1:c.1775T>C	XP_011533424.1:p.Val592Ala
XR_941601.1:n.3326T>C
XR_941602.1:n.3326T>C
XR_941603.1:n.3326T>C
XR_941604.1:n.3326T>C
NM_001330578.1:c.2873T>C	NP_001317507.1:p.Val958Ala
NM_001330579.1:c.2855T>C	NP_001317508.1:p.Val952Ala
XM_005266424.4:c.3011T>C	XP_005266481.1:p.Val1004Ala
XM_005266430.4:c.3107T>C	XP_005266487.1:p.Val1036Ala
XM_005266431.4:c.3071T>C	XP_005266488.1:p.Val1024Ala
XM_006719837.3:c.3011T>C	XP_006719900.1:p.Val1004Ala
XM_011535117.3:c.3011T>C	XP_011533419.1:p.Val1004Ala
XM_017020627.1:c.3011T>C	XP_016876116.1:p.Val1004Ala
NM_000053.4:c.3107T>C MANE Select	NP_000044.2:p.Val1036Ala
NM_001005918.3:c.2486T>C	NP_001005918.1:p.Val829Ala
NM_001330579.2:c.2855T>C	NP_001317508.1:p.Val952Ala
NM_001243182.2:c.2774T>C	NP_001230111.1:p.Val925Ala
NM_001330578.2:c.2873T>C	NP_001317507.1:p.Val958Ala