Canonical Allele Identifier: CA388020842

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957026509
• MyVariant Identifiers: chr13:g.52511433C>G (hg19) ; chr13:g.51937297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937297C>G , CM000675.2:g.51937297C>G	GRCh38
NC_000013.10:g.52511433C>G , CM000675.1:g.52511433C>G	GRCh37
NC_000013.9:g.51409434C>G	NCBI36
NG_008806.1:g.79198G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1650G>C	ENSP00000489512.2:n.*1650G>C
ENST00000673864.2:c.*2744G>C	ENSP00000501045.2:n.*2744G>C
ENST00000674147.2:c.3379G>C	ENSP00000500964.2:p.Val1127Leu
ENST00000242839.10:c.4000G>C MANE Select	ENSP00000242839.5:p.Val1334Leu
ENST00000344297.9:c.3379G>C	ENSP00000342559.5:p.Val1127Leu
ENST00000400366.6:c.3667G>C	ENSP00000383217.3:p.Val1223Leu
ENST00000448424.7:c.3748G>C	ENSP00000416738.3:p.Val1250Leu
ENST00000673696.1:n.1323G>C
ENST00000673772.1:c.3766G>C	ENSP00000501168.1:p.Val1256Leu
ENST00000673867.1:n.4139G>C
ENST00000673923.1:n.866G>C
ENST00000674147.1:c.2935G>C	ENSP00000500964.1:p.Val979Leu
ENST00000242839.8:c.4000G>C	ENSP00000242839.4:p.Val1334Leu
ENST00000344297.8:c.3379G>C	ENSP00000342559.5:p.Val1127Leu
ENST00000400366.5:c.3667G>C	ENSP00000383217.3:p.Val1223Leu
ENST00000400370.8:c.2710G>C	ENSP00000383221.3:p.Val904Leu
ENST00000418097.7:c.3805G>C	ENSP00000393343.2:p.Val1269Leu
ENST00000448424.6:c.3766G>C	ENSP00000416738.2:p.Val1256Leu
ENST00000634296.1:c.1778G>C
ENST00000634308.1:c.*1101G>C	ENSP00000489234.1:n.*1101G>C
ENST00000634620.1:n.4744G>C
ENST00000634810.1:n.3345G>C
ENST00000634844.1:c.3856G>C	ENSP00000489398.1:p.Val1286Leu
NM_000053.3:c.4000G>C	NP_000044.2:p.Val1334Leu
NM_001005918.2:c.3379G>C	NP_001005918.1:p.Val1127Leu
NM_001243182.1:c.3667G>C	NP_001230111.1:p.Val1223Leu
XM_005266423.2:c.3904G>C	XP_005266480.1:p.Val1302Leu
XM_005266424.3:c.3904G>C	XP_005266481.1:p.Val1302Leu
XM_005266427.2:c.3766G>C	XP_005266484.1:p.Val1256Leu
XM_005266428.1:c.3748G>C	XP_005266485.1:p.Val1250Leu
XM_005266430.3:c.4000G>C	XP_005266487.1:p.Val1334Leu
XM_005266431.2:c.3964G>C	XP_005266488.1:p.Val1322Leu
XM_005266432.2:c.3514G>C	XP_005266489.1:p.Val1172Leu
XM_006719837.2:c.3904G>C	XP_006719900.1:p.Val1302Leu
XM_006719838.1:c.1816G>C	XP_006719901.1:p.Val606Leu
XM_006719839.1:c.1633G>C	XP_006719902.1:p.Val545Leu
XM_011535117.1:c.3904G>C	XP_011533419.1:p.Val1302Leu
XM_011535118.1:c.3865G>C	XP_011533420.1:p.Val1289Leu
XM_011535119.1:c.3817G>C	XP_011533421.1:p.Val1273Leu
XM_011535120.1:c.3586G>C	XP_011533422.1:p.Val1196Leu
XM_011535121.1:c.3487G>C	XP_011533423.1:p.Val1163Leu
XM_011535122.1:c.2668G>C	XP_011533424.1:p.Val890Leu
XR_941601.1:n.4219G>C
XR_941602.1:n.4219G>C
XR_941603.1:n.4219G>C
XR_941604.1:n.4219G>C
NM_001330578.1:c.3766G>C	NP_001317507.1:p.Val1256Leu
NM_001330579.1:c.3748G>C	NP_001317508.1:p.Val1250Leu
XM_005266424.4:c.3904G>C	XP_005266481.1:p.Val1302Leu
XM_005266430.4:c.4000G>C	XP_005266487.1:p.Val1334Leu
XM_005266431.4:c.3964G>C	XP_005266488.1:p.Val1322Leu
XM_006719837.3:c.3904G>C	XP_006719900.1:p.Val1302Leu
XM_011535117.3:c.3904G>C	XP_011533419.1:p.Val1302Leu
XM_017020627.1:c.3904G>C	XP_016876116.1:p.Val1302Leu
NM_000053.4:c.4000G>C MANE Select	NP_000044.2:p.Val1334Leu
NM_001005918.3:c.3379G>C	NP_001005918.1:p.Val1127Leu
NM_001330579.2:c.3748G>C	NP_001317508.1:p.Val1250Leu
NM_001243182.2:c.3667G>C	NP_001230111.1:p.Val1223Leu
NM_001330578.2:c.3766G>C	NP_001317507.1:p.Val1256Leu