Canonical Allele Identifier: CA388026695

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941197-A-G
• MyVariant Identifiers: chr13:g.52515333A>G (hg19) ; chr13:g.51941197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941197A>G , CM000675.2:g.51941197A>G	GRCh38
NC_000013.10:g.52515333A>G , CM000675.1:g.52515333A>G	GRCh37
NC_000013.9:g.51413334A>G	NCBI36
NG_008806.1:g.75298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1090T>C	ENSP00000489512.2:n.*1090T>C
ENST00000673864.2:c.*2184T>C	ENSP00000501045.2:n.*2184T>C
ENST00000674147.2:c.2819T>C	ENSP00000500964.2:p.Leu940Pro
ENST00000242839.10:c.3440T>C MANE Select	ENSP00000242839.5:p.Leu1147Pro
ENST00000344297.9:c.2819T>C	ENSP00000342559.5:p.Leu940Pro
ENST00000400366.6:c.3107T>C	ENSP00000383217.3:p.Leu1036Pro
ENST00000448424.7:c.3188T>C	ENSP00000416738.3:p.Leu1063Pro
ENST00000673772.1:c.3206T>C	ENSP00000501168.1:p.Leu1069Pro
ENST00000673867.1:n.3579T>C
ENST00000674126.1:n.3803T>C
ENST00000674147.1:c.2375T>C	ENSP00000500964.1:p.Leu792Pro
ENST00000242839.8:c.3440T>C	ENSP00000242839.4:p.Leu1147Pro
ENST00000344297.8:c.2819T>C	ENSP00000342559.5:p.Leu940Pro
ENST00000400366.5:c.3107T>C	ENSP00000383217.3:p.Leu1036Pro
ENST00000400370.8:c.2150T>C	ENSP00000383221.3:p.Leu717Pro
ENST00000418097.7:c.3245T>C	ENSP00000393343.2:p.Leu1082Pro
ENST00000448424.6:c.3206T>C	ENSP00000416738.2:p.Leu1069Pro
ENST00000634296.1:c.1218T>C
ENST00000634308.1:c.*541T>C	ENSP00000489234.1:n.*541T>C
ENST00000634620.1:n.4184T>C
ENST00000634810.1:n.2785T>C
ENST00000634844.1:c.3296T>C	ENSP00000489398.1:p.Leu1099Pro
NM_000053.3:c.3440T>C	NP_000044.2:p.Leu1147Pro
NM_001005918.2:c.2819T>C	NP_001005918.1:p.Leu940Pro
NM_001243182.1:c.3107T>C	NP_001230111.1:p.Leu1036Pro
XM_005266423.2:c.3344T>C	XP_005266480.1:p.Leu1115Pro
XM_005266424.3:c.3344T>C	XP_005266481.1:p.Leu1115Pro
XM_005266427.2:c.3206T>C	XP_005266484.1:p.Leu1069Pro
XM_005266428.1:c.3188T>C	XP_005266485.1:p.Leu1063Pro
XM_005266430.3:c.3440T>C	XP_005266487.1:p.Leu1147Pro
XM_005266431.2:c.3404T>C	XP_005266488.1:p.Leu1135Pro
XM_005266432.2:c.2954T>C	XP_005266489.1:p.Leu985Pro
XM_006719837.2:c.3344T>C	XP_006719900.1:p.Leu1115Pro
XM_006719838.1:c.1256T>C	XP_006719901.1:p.Leu419Pro
XM_006719839.1:c.1073T>C	XP_006719902.1:p.Leu358Pro
XM_011535117.1:c.3344T>C	XP_011533419.1:p.Leu1115Pro
XM_011535118.1:c.3305T>C	XP_011533420.1:p.Leu1102Pro
XM_011535119.1:c.3257T>C	XP_011533421.1:p.Leu1086Pro
XM_011535120.1:c.3026T>C	XP_011533422.1:p.Leu1009Pro
XM_011535121.1:c.2927T>C	XP_011533423.1:p.Leu976Pro
XM_011535122.1:c.2108T>C	XP_011533424.1:p.Leu703Pro
XR_941601.1:n.3659T>C
XR_941602.1:n.3659T>C
XR_941603.1:n.3659T>C
XR_941604.1:n.3659T>C
NM_001330578.1:c.3206T>C	NP_001317507.1:p.Leu1069Pro
NM_001330579.1:c.3188T>C	NP_001317508.1:p.Leu1063Pro
XM_005266424.4:c.3344T>C	XP_005266481.1:p.Leu1115Pro
XM_005266430.4:c.3440T>C	XP_005266487.1:p.Leu1147Pro
XM_005266431.4:c.3404T>C	XP_005266488.1:p.Leu1135Pro
XM_006719837.3:c.3344T>C	XP_006719900.1:p.Leu1115Pro
XM_011535117.3:c.3344T>C	XP_011533419.1:p.Leu1115Pro
XM_017020627.1:c.3344T>C	XP_016876116.1:p.Leu1115Pro
NM_000053.4:c.3440T>C MANE Select	NP_000044.2:p.Leu1147Pro
NM_001005918.3:c.2819T>C	NP_001005918.1:p.Leu940Pro
NM_001330579.2:c.3188T>C	NP_001317508.1:p.Leu1063Pro
NM_001243182.2:c.3107T>C	NP_001230111.1:p.Leu1036Pro
NM_001330578.2:c.3206T>C	NP_001317507.1:p.Leu1069Pro