Canonical Allele Identifier: CA388025974

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941095-A-G
• MyVariant Identifiers: chr13:g.52515231A>G (hg19) ; chr13:g.51941095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941095A>G , CM000675.2:g.51941095A>G	GRCh38
NC_000013.10:g.52515231A>G , CM000675.1:g.52515231A>G	GRCh37
NC_000013.9:g.51413232A>G	NCBI36
NG_008806.1:g.75400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1192T>C	ENSP00000489512.2:n.*1192T>C
ENST00000673864.2:c.*2286T>C	ENSP00000501045.2:n.*2286T>C
ENST00000674147.2:c.2921T>C	ENSP00000500964.2:p.Leu974Pro
ENST00000242839.10:c.3542T>C MANE Select	ENSP00000242839.5:p.Leu1181Pro
ENST00000344297.9:c.2921T>C	ENSP00000342559.5:p.Leu974Pro
ENST00000400366.6:c.3209T>C	ENSP00000383217.3:p.Leu1070Pro
ENST00000448424.7:c.3290T>C	ENSP00000416738.3:p.Leu1097Pro
ENST00000673772.1:c.3308T>C	ENSP00000501168.1:p.Leu1103Pro
ENST00000673867.1:n.3681T>C
ENST00000674126.1:n.3905T>C
ENST00000674147.1:c.2477T>C	ENSP00000500964.1:p.Leu826Pro
ENST00000242839.8:c.3542T>C	ENSP00000242839.4:p.Leu1181Pro
ENST00000344297.8:c.2921T>C	ENSP00000342559.5:p.Leu974Pro
ENST00000400366.5:c.3209T>C	ENSP00000383217.3:p.Leu1070Pro
ENST00000400370.8:c.2252T>C	ENSP00000383221.3:p.Leu751Pro
ENST00000418097.7:c.3347T>C	ENSP00000393343.2:p.Leu1116Pro
ENST00000448424.6:c.3308T>C	ENSP00000416738.2:p.Leu1103Pro
ENST00000634296.1:c.1320T>C
ENST00000634308.1:c.*643T>C	ENSP00000489234.1:n.*643T>C
ENST00000634620.1:n.4286T>C
ENST00000634810.1:n.2887T>C
ENST00000634844.1:c.3398T>C	ENSP00000489398.1:p.Leu1133Pro
NM_000053.3:c.3542T>C	NP_000044.2:p.Leu1181Pro
NM_001005918.2:c.2921T>C	NP_001005918.1:p.Leu974Pro
NM_001243182.1:c.3209T>C	NP_001230111.1:p.Leu1070Pro
XM_005266423.2:c.3446T>C	XP_005266480.1:p.Leu1149Pro
XM_005266424.3:c.3446T>C	XP_005266481.1:p.Leu1149Pro
XM_005266427.2:c.3308T>C	XP_005266484.1:p.Leu1103Pro
XM_005266428.1:c.3290T>C	XP_005266485.1:p.Leu1097Pro
XM_005266430.3:c.3542T>C	XP_005266487.1:p.Leu1181Pro
XM_005266431.2:c.3506T>C	XP_005266488.1:p.Leu1169Pro
XM_005266432.2:c.3056T>C	XP_005266489.1:p.Leu1019Pro
XM_006719837.2:c.3446T>C	XP_006719900.1:p.Leu1149Pro
XM_006719838.1:c.1358T>C	XP_006719901.1:p.Leu453Pro
XM_006719839.1:c.1175T>C	XP_006719902.1:p.Leu392Pro
XM_011535117.1:c.3446T>C	XP_011533419.1:p.Leu1149Pro
XM_011535118.1:c.3407T>C	XP_011533420.1:p.Leu1136Pro
XM_011535119.1:c.3359T>C	XP_011533421.1:p.Leu1120Pro
XM_011535120.1:c.3128T>C	XP_011533422.1:p.Leu1043Pro
XM_011535121.1:c.3029T>C	XP_011533423.1:p.Leu1010Pro
XM_011535122.1:c.2210T>C	XP_011533424.1:p.Leu737Pro
XR_941601.1:n.3761T>C
XR_941602.1:n.3761T>C
XR_941603.1:n.3761T>C
XR_941604.1:n.3761T>C
NM_001330578.1:c.3308T>C	NP_001317507.1:p.Leu1103Pro
NM_001330579.1:c.3290T>C	NP_001317508.1:p.Leu1097Pro
XM_005266424.4:c.3446T>C	XP_005266481.1:p.Leu1149Pro
XM_005266430.4:c.3542T>C	XP_005266487.1:p.Leu1181Pro
XM_005266431.4:c.3506T>C	XP_005266488.1:p.Leu1169Pro
XM_006719837.3:c.3446T>C	XP_006719900.1:p.Leu1149Pro
XM_011535117.3:c.3446T>C	XP_011533419.1:p.Leu1149Pro
XM_017020627.1:c.3446T>C	XP_016876116.1:p.Leu1149Pro
NM_000053.4:c.3542T>C MANE Select	NP_000044.2:p.Leu1181Pro
NM_001005918.3:c.2921T>C	NP_001005918.1:p.Leu974Pro
NM_001330579.2:c.3290T>C	NP_001317508.1:p.Leu1097Pro
NM_001243182.2:c.3209T>C	NP_001230111.1:p.Leu1070Pro
NM_001330578.2:c.3308T>C	NP_001317507.1:p.Leu1103Pro