Canonical Allele Identifier: CA487540800
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91747835G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91281491G>C , CM000676.2:g.91281491G>C GRCh38
NC_000014.8:g.91747835G>C , CM000676.1:g.91747835G>C GRCh37
NC_000014.7:g.90817588G>C NCBI36
NG_033118.1:g.141354C>G
NG_033118.2:g.141354C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.4665C>G MANE Select ENSP00000374507.6:p.Ser1555=
ENST00000331194.8:c.237C>G ENSP00000330332.8:p.Ser79=
ENST00000334448.5:n.330C>G
ENST00000389857.10:c.4665C>G ENSP00000374507.6:p.Ser1555=
ENST00000556726.5:c.893C>G
NM_001080414.3:c.4665C>G NP_001073883.2:p.Ser1555=
XM_011536796.1:c.4557C>G XP_011535098.1:p.Ser1519=
XR_429316.2:n.4793C>G
XR_943459.1:n.4793C>G
XM_011536796.2:c.4557C>G XP_011535098.1:p.Ser1519=
XM_017021335.2:c.4665C>G XP_016876824.1:p.Ser1555=
XM_017021336.1:c.1746C>G XP_016876825.1:p.Ser582=
XR_429316.4:n.4791C>G
NM_001080414.4:c.4665C>G MANE Select NP_001073883.2:p.Ser1555=