Canonical Allele Identifier: CA388847522
Gene: CHAMP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2289902
ClinVar RCV Id: RCV002849275

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.114324821C>A , CM000675.2:g.114324821C>A GRCh38
NC_000013.10:g.115090296C>A , CM000675.1:g.115090296C>A GRCh37
NC_000013.9:g.114108398C>A NCBI36
NG_051829.1:g.15487C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643483.2:c.979C>A ENSP00000496699.1:p.Pro327Thr
ENST00000644294.2:c.979C>A ENSP00000495985.2:p.Pro327Thr
ENST00000645174.2:c.979C>A ENSP00000494031.2:p.Pro327Thr
ENST00000700527.1:c.979C>A ENSP00000515032.1:p.Pro327Thr
ENST00000700528.1:c.979C>A ENSP00000515033.1:p.Pro327Thr
ENST00000361283.4:c.979C>A MANE Select ENSP00000354730.1:p.Pro327Thr
ENST00000643483.1:c.979C>A ENSP00000496699.1:p.Pro327Thr
ENST00000646155.1:n.123+10178C>A
ENST00000646956.1:n.285+3589C>A
ENST00000361283.2:c.979C>A ENSP00000354730.1:p.Pro327Thr
NM_001164144.1:c.979C>A NP_001157616.1:p.Pro327Thr
NM_001164145.1:c.979C>A NP_001157617.1:p.Pro327Thr
NM_032436.2:c.979C>A NP_115812.1:p.Pro327Thr
NM_001164144.2:c.979C>A NP_001157616.1:p.Pro327Thr
NM_001164145.2:c.979C>A NP_001157617.1:p.Pro327Thr
NM_032436.3:c.979C>A NP_115812.1:p.Pro327Thr
NM_032436.4:c.979C>A MANE Select NP_115812.1:p.Pro327Thr
NM_001164144.3:c.979C>A NP_001157616.1:p.Pro327Thr
NM_001164145.3:c.979C>A NP_001157617.1:p.Pro327Thr