Canonical Allele Identifier: CA388024402

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513293A>G (hg19) ; chr13:g.51939157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939157A>G , CM000675.2:g.51939157A>G	GRCh38
NC_000013.10:g.52513293A>G , CM000675.1:g.52513293A>G	GRCh37
NC_000013.9:g.51411294A>G	NCBI36
NG_008806.1:g.77338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1243T>C	ENSP00000489512.2:n.*1243T>C
ENST00000673864.2:c.*2337T>C	ENSP00000501045.2:n.*2337T>C
ENST00000674147.2:c.2972T>C	ENSP00000500964.2:p.Val991Ala
ENST00000242839.10:c.3593T>C MANE Select	ENSP00000242839.5:p.Val1198Ala
ENST00000344297.9:c.2972T>C	ENSP00000342559.5:p.Val991Ala
ENST00000400366.6:c.3260T>C	ENSP00000383217.3:p.Val1087Ala
ENST00000448424.7:c.3341T>C	ENSP00000416738.3:p.Val1114Ala
ENST00000673696.1:n.834T>C
ENST00000673772.1:c.3359T>C	ENSP00000501168.1:p.Val1120Ala
ENST00000673867.1:n.3732T>C
ENST00000673923.1:n.459T>C
ENST00000674147.1:c.2528T>C	ENSP00000500964.1:p.Val843Ala
ENST00000242839.8:c.3593T>C	ENSP00000242839.4:p.Val1198Ala
ENST00000344297.8:c.2972T>C	ENSP00000342559.5:p.Val991Ala
ENST00000400366.5:c.3260T>C	ENSP00000383217.3:p.Val1087Ala
ENST00000400370.8:c.2303T>C	ENSP00000383221.3:p.Val768Ala
ENST00000418097.7:c.3398T>C	ENSP00000393343.2:p.Val1133Ala
ENST00000448424.6:c.3359T>C	ENSP00000416738.2:p.Val1120Ala
ENST00000634296.1:c.1371T>C
ENST00000634308.1:c.*694T>C	ENSP00000489234.1:n.*694T>C
ENST00000634620.1:n.4337T>C
ENST00000634810.1:n.2938T>C
ENST00000634844.1:c.3449T>C	ENSP00000489398.1:p.Val1150Ala
NM_000053.3:c.3593T>C	NP_000044.2:p.Val1198Ala
NM_001005918.2:c.2972T>C	NP_001005918.1:p.Val991Ala
NM_001243182.1:c.3260T>C	NP_001230111.1:p.Val1087Ala
XM_005266423.2:c.3497T>C	XP_005266480.1:p.Val1166Ala
XM_005266424.3:c.3497T>C	XP_005266481.1:p.Val1166Ala
XM_005266427.2:c.3359T>C	XP_005266484.1:p.Val1120Ala
XM_005266428.1:c.3341T>C	XP_005266485.1:p.Val1114Ala
XM_005266430.3:c.3593T>C	XP_005266487.1:p.Val1198Ala
XM_005266431.2:c.3557T>C	XP_005266488.1:p.Val1186Ala
XM_005266432.2:c.3107T>C	XP_005266489.1:p.Val1036Ala
XM_006719837.2:c.3497T>C	XP_006719900.1:p.Val1166Ala
XM_006719838.1:c.1409T>C	XP_006719901.1:p.Val470Ala
XM_006719839.1:c.1226T>C	XP_006719902.1:p.Val409Ala
XM_011535117.1:c.3497T>C	XP_011533419.1:p.Val1166Ala
XM_011535118.1:c.3458T>C	XP_011533420.1:p.Val1153Ala
XM_011535119.1:c.3410T>C	XP_011533421.1:p.Val1137Ala
XM_011535120.1:c.3179T>C	XP_011533422.1:p.Val1060Ala
XM_011535121.1:c.3080T>C	XP_011533423.1:p.Val1027Ala
XM_011535122.1:c.2261T>C	XP_011533424.1:p.Val754Ala
XR_941601.1:n.3812T>C
XR_941602.1:n.3812T>C
XR_941603.1:n.3812T>C
XR_941604.1:n.3812T>C
NM_001330578.1:c.3359T>C	NP_001317507.1:p.Val1120Ala
NM_001330579.1:c.3341T>C	NP_001317508.1:p.Val1114Ala
XM_005266424.4:c.3497T>C	XP_005266481.1:p.Val1166Ala
XM_005266430.4:c.3593T>C	XP_005266487.1:p.Val1198Ala
XM_005266431.4:c.3557T>C	XP_005266488.1:p.Val1186Ala
XM_006719837.3:c.3497T>C	XP_006719900.1:p.Val1166Ala
XM_011535117.3:c.3497T>C	XP_011533419.1:p.Val1166Ala
XM_017020627.1:c.3497T>C	XP_016876116.1:p.Val1166Ala
NM_000053.4:c.3593T>C MANE Select	NP_000044.2:p.Val1198Ala
NM_001005918.3:c.2972T>C	NP_001005918.1:p.Val991Ala
NM_001330579.2:c.3341T>C	NP_001317508.1:p.Val1114Ala
NM_001243182.2:c.3260T>C	NP_001230111.1:p.Val1087Ala
NM_001330578.2:c.3359T>C	NP_001317507.1:p.Val1120Ala