Canonical Allele Identifier: CA388848341
Gene: CHAMP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.114325119T>C , CM000675.2:g.114325119T>C GRCh38
NC_000013.10:g.115090594T>C , CM000675.1:g.115090594T>C GRCh37
NC_000013.9:g.114108696T>C NCBI36
NG_051829.1:g.15785T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643483.2:c.1277T>C ENSP00000496699.1:p.Leu426Pro
ENST00000644294.2:c.1277T>C ENSP00000495985.2:p.Leu426Pro
ENST00000645174.2:c.1277T>C ENSP00000494031.2:p.Leu426Pro
ENST00000700527.1:c.1277T>C ENSP00000515032.1:p.Leu426Pro
ENST00000700528.1:c.1277T>C ENSP00000515033.1:p.Leu426Pro
ENST00000361283.4:c.1277T>C MANE Select ENSP00000354730.1:p.Leu426Pro
ENST00000643483.1:c.1277T>C ENSP00000496699.1:p.Leu426Pro
ENST00000646155.1:n.123+10476T>C
ENST00000646956.1:n.285+3887T>C
ENST00000361283.2:c.1277T>C ENSP00000354730.1:p.Leu426Pro
NM_001164144.1:c.1277T>C NP_001157616.1:p.Leu426Pro
NM_001164145.1:c.1277T>C NP_001157617.1:p.Leu426Pro
NM_032436.2:c.1277T>C NP_115812.1:p.Leu426Pro
NM_001164144.2:c.1277T>C NP_001157616.1:p.Leu426Pro
NM_001164145.2:c.1277T>C NP_001157617.1:p.Leu426Pro
NM_032436.3:c.1277T>C NP_115812.1:p.Leu426Pro
NM_032436.4:c.1277T>C MANE Select NP_115812.1:p.Leu426Pro
NM_001164144.3:c.1277T>C NP_001157616.1:p.Leu426Pro
NM_001164145.3:c.1277T>C NP_001157617.1:p.Leu426Pro