Canonical Allele Identifier: CA390613291

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91747840G>C (hg19) ; chr14:g.91281496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281496G>C , CM000676.2:g.91281496G>C	GRCh38
NC_000014.8:g.91747840G>C , CM000676.1:g.91747840G>C	GRCh37
NC_000014.7:g.90817593G>C	NCBI36
NG_033118.1:g.141349C>G
NG_033118.2:g.141349C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4660C>G MANE Select	ENSP00000374507.6:p.Pro1554Ala
ENST00000331194.8:c.232C>G	ENSP00000330332.8:p.Pro78Ala
ENST00000334448.5:n.325C>G
ENST00000389857.10:c.4660C>G	ENSP00000374507.6:p.Pro1554Ala
ENST00000556726.5:c.888C>G
NM_001080414.3:c.4660C>G	NP_001073883.2:p.Pro1554Ala
XM_011536796.1:c.4552C>G	XP_011535098.1:p.Pro1518Ala
XR_429316.2:n.4788C>G
XR_943459.1:n.4788C>G
XM_011536796.2:c.4552C>G	XP_011535098.1:p.Pro1518Ala
XM_017021335.2:c.4660C>G	XP_016876824.1:p.Pro1554Ala
XM_017021336.1:c.1741C>G	XP_016876825.1:p.Pro581Ala
XR_429316.4:n.4786C>G
NM_001080414.4:c.4660C>G MANE Select	NP_001073883.2:p.Pro1554Ala