Canonical Allele Identifier: CA390612408

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91744442G>C (hg19) ; chr14:g.91278098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278098G>C , CM000676.2:g.91278098G>C	GRCh38
NC_000014.8:g.91744442G>C , CM000676.1:g.91744442G>C	GRCh37
NC_000014.7:g.90814195G>C	NCBI36
NG_033118.1:g.144747C>G
NG_033118.2:g.144747C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4882C>G MANE Select	ENSP00000374507.6:p.Leu1628Val
ENST00000331194.8:c.454C>G	ENSP00000330332.8:p.Leu152Val
ENST00000334448.5:n.694C>G
ENST00000389857.10:c.4882C>G	ENSP00000374507.6:p.Leu1628Val
ENST00000556726.5:c.1110C>G
NM_001080414.3:c.4882C>G	NP_001073883.2:p.Leu1628Val
XM_011536796.1:c.4774C>G	XP_011535098.1:p.Leu1592Val
XR_429316.2:n.5157C>G
XM_011536796.2:c.4774C>G	XP_011535098.1:p.Leu1592Val
XM_017021336.1:c.1963C>G	XP_016876825.1:p.Leu655Val
XR_429316.4:n.5155C>G
NM_001080414.4:c.4882C>G MANE Select	NP_001073883.2:p.Leu1628Val