Canonical Allele Identifier: CA265570063
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs986987943

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91313597A>G , CM000676.2:g.91313597A>G GRCh38
NC_000014.8:g.91779941A>G , CM000676.1:g.91779941A>G GRCh37
NC_000014.7:g.90849694A>G NCBI36
NG_033118.1:g.109248T>C
NG_033118.2:g.109248T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.2219T>C MANE Select ENSP00000374507.6:p.Leu740Pro
ENST00000389857.10:c.2219T>C ENSP00000374507.6:p.Leu740Pro
NM_001080414.3:c.2219T>C NP_001073883.2:p.Leu740Pro
XM_005267691.3:c.2219T>C XP_005267748.1:p.Leu740Pro
XM_011536796.1:c.2111T>C XP_011535098.1:p.Leu704Pro
XR_429316.2:n.2347T>C
XR_943459.1:n.2347T>C
XM_005267691.5:c.2219T>C XP_005267748.1:p.Leu740Pro
XM_011536796.2:c.2111T>C XP_011535098.1:p.Leu704Pro
XM_017021335.2:c.2219T>C XP_016876824.1:p.Leu740Pro
XM_017021337.2:c.2219T>C XP_016876826.1:p.Leu740Pro
XR_429316.4:n.2345T>C
NM_001080414.4:c.2219T>C MANE Select NP_001073883.2:p.Leu740Pro