Canonical Allele Identifier: CA388026443

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515292T>G (hg19) ; chr13:g.51941156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941156T>G , CM000675.2:g.51941156T>G	GRCh38
NC_000013.10:g.52515292T>G , CM000675.1:g.52515292T>G	GRCh37
NC_000013.9:g.51413293T>G	NCBI36
NG_008806.1:g.75339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1131A>C	ENSP00000489512.2:n.*1131A>C
ENST00000673864.2:c.*2225A>C	ENSP00000501045.2:n.*2225A>C
ENST00000674147.2:c.2860A>C	ENSP00000500964.2:p.Ile954Leu
ENST00000242839.10:c.3481A>C MANE Select	ENSP00000242839.5:p.Ile1161Leu
ENST00000344297.9:c.2860A>C	ENSP00000342559.5:p.Ile954Leu
ENST00000400366.6:c.3148A>C	ENSP00000383217.3:p.Ile1050Leu
ENST00000448424.7:c.3229A>C	ENSP00000416738.3:p.Ile1077Leu
ENST00000673772.1:c.3247A>C	ENSP00000501168.1:p.Ile1083Leu
ENST00000673867.1:n.3620A>C
ENST00000674126.1:n.3844A>C
ENST00000674147.1:c.2416A>C	ENSP00000500964.1:p.Ile806Leu
ENST00000242839.8:c.3481A>C	ENSP00000242839.4:p.Ile1161Leu
ENST00000344297.8:c.2860A>C	ENSP00000342559.5:p.Ile954Leu
ENST00000400366.5:c.3148A>C	ENSP00000383217.3:p.Ile1050Leu
ENST00000400370.8:c.2191A>C	ENSP00000383221.3:p.Ile731Leu
ENST00000418097.7:c.3286A>C	ENSP00000393343.2:p.Ile1096Leu
ENST00000448424.6:c.3247A>C	ENSP00000416738.2:p.Ile1083Leu
ENST00000634296.1:c.1259A>C
ENST00000634308.1:c.*582A>C	ENSP00000489234.1:n.*582A>C
ENST00000634620.1:n.4225A>C
ENST00000634810.1:n.2826A>C
ENST00000634844.1:c.3337A>C	ENSP00000489398.1:p.Ile1113Leu
NM_000053.3:c.3481A>C	NP_000044.2:p.Ile1161Leu
NM_001005918.2:c.2860A>C	NP_001005918.1:p.Ile954Leu
NM_001243182.1:c.3148A>C	NP_001230111.1:p.Ile1050Leu
XM_005266423.2:c.3385A>C	XP_005266480.1:p.Ile1129Leu
XM_005266424.3:c.3385A>C	XP_005266481.1:p.Ile1129Leu
XM_005266427.2:c.3247A>C	XP_005266484.1:p.Ile1083Leu
XM_005266428.1:c.3229A>C	XP_005266485.1:p.Ile1077Leu
XM_005266430.3:c.3481A>C	XP_005266487.1:p.Ile1161Leu
XM_005266431.2:c.3445A>C	XP_005266488.1:p.Ile1149Leu
XM_005266432.2:c.2995A>C	XP_005266489.1:p.Ile999Leu
XM_006719837.2:c.3385A>C	XP_006719900.1:p.Ile1129Leu
XM_006719838.1:c.1297A>C	XP_006719901.1:p.Ile433Leu
XM_006719839.1:c.1114A>C	XP_006719902.1:p.Ile372Leu
XM_011535117.1:c.3385A>C	XP_011533419.1:p.Ile1129Leu
XM_011535118.1:c.3346A>C	XP_011533420.1:p.Ile1116Leu
XM_011535119.1:c.3298A>C	XP_011533421.1:p.Ile1100Leu
XM_011535120.1:c.3067A>C	XP_011533422.1:p.Ile1023Leu
XM_011535121.1:c.2968A>C	XP_011533423.1:p.Ile990Leu
XM_011535122.1:c.2149A>C	XP_011533424.1:p.Ile717Leu
XR_941601.1:n.3700A>C
XR_941602.1:n.3700A>C
XR_941603.1:n.3700A>C
XR_941604.1:n.3700A>C
NM_001330578.1:c.3247A>C	NP_001317507.1:p.Ile1083Leu
NM_001330579.1:c.3229A>C	NP_001317508.1:p.Ile1077Leu
XM_005266424.4:c.3385A>C	XP_005266481.1:p.Ile1129Leu
XM_005266430.4:c.3481A>C	XP_005266487.1:p.Ile1161Leu
XM_005266431.4:c.3445A>C	XP_005266488.1:p.Ile1149Leu
XM_006719837.3:c.3385A>C	XP_006719900.1:p.Ile1129Leu
XM_011535117.3:c.3385A>C	XP_011533419.1:p.Ile1129Leu
XM_017020627.1:c.3385A>C	XP_016876116.1:p.Ile1129Leu
NM_000053.4:c.3481A>C MANE Select	NP_000044.2:p.Ile1161Leu
NM_001005918.3:c.2860A>C	NP_001005918.1:p.Ile954Leu
NM_001330579.2:c.3229A>C	NP_001317508.1:p.Ile1077Leu
NM_001243182.2:c.3148A>C	NP_001230111.1:p.Ile1050Leu
NM_001330578.2:c.3247A>C	NP_001317507.1:p.Ile1083Leu