Canonical Allele Identifier: CA388847031

Gene: CHAMP1

Linked Data

• dbSNP Id: rs2087216645
• gnomAD v3: 13-114324585-C-G
• gnomAD v4: 13-114324585-C-G
• MyVariant Identifiers: chr13:g.115090060C>G (hg19) ; chr13:g.114324585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114324585C>G , CM000675.2:g.114324585C>G	GRCh38
NC_000013.10:g.115090060C>G , CM000675.1:g.115090060C>G	GRCh37
NC_000013.9:g.114108162C>G	NCBI36
NG_051829.1:g.15251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.743C>G	ENSP00000496699.1:p.Pro248Arg
ENST00000644294.2:c.743C>G	ENSP00000495985.2:p.Pro248Arg
ENST00000645174.2:c.743C>G	ENSP00000494031.2:p.Pro248Arg
ENST00000700527.1:c.743C>G	ENSP00000515032.1:p.Pro248Arg
ENST00000700528.1:c.743C>G	ENSP00000515033.1:p.Pro248Arg
ENST00000361283.4:c.743C>G MANE Select	ENSP00000354730.1:p.Pro248Arg
ENST00000643483.1:c.743C>G	ENSP00000496699.1:p.Pro248Arg
ENST00000646155.1:n.123+9942C>G
ENST00000646956.1:n.285+3353C>G
ENST00000361283.2:c.743C>G	ENSP00000354730.1:p.Pro248Arg
NM_001164144.1:c.743C>G	NP_001157616.1:p.Pro248Arg
NM_001164145.1:c.743C>G	NP_001157617.1:p.Pro248Arg
NM_032436.2:c.743C>G	NP_115812.1:p.Pro248Arg
NM_001164144.2:c.743C>G	NP_001157616.1:p.Pro248Arg
NM_001164145.2:c.743C>G	NP_001157617.1:p.Pro248Arg
NM_032436.3:c.743C>G	NP_115812.1:p.Pro248Arg
NM_032436.4:c.743C>G MANE Select	NP_115812.1:p.Pro248Arg
NM_001164144.3:c.743C>G	NP_001157616.1:p.Pro248Arg
NM_001164145.3:c.743C>G	NP_001157617.1:p.Pro248Arg