Canonical Allele Identifier: CA390613094

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91745650A>G (hg19) ; chr14:g.91279306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279306A>G , CM000676.2:g.91279306A>G	GRCh38
NC_000014.8:g.91745650A>G , CM000676.1:g.91745650A>G	GRCh37
NC_000014.7:g.90815403A>G	NCBI36
NG_033118.1:g.143539T>C
NG_033118.2:g.143539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700T>C MANE Select	ENSP00000374507.6:p.Val1567Ala
ENST00000331194.8:c.272T>C	ENSP00000330332.8:p.Val91Ala
ENST00000334448.5:n.512T>C
ENST00000389857.10:c.4700T>C	ENSP00000374507.6:p.Val1567Ala
ENST00000556726.5:c.928T>C
ENST00000557455.1:n.672T>C
NM_001080414.3:c.4700T>C	NP_001073883.2:p.Val1567Ala
XM_011536796.1:c.4592T>C	XP_011535098.1:p.Val1531Ala
XR_429316.2:n.4975T>C
XM_011536796.2:c.4592T>C	XP_011535098.1:p.Val1531Ala
XM_017021336.1:c.1781T>C	XP_016876825.1:p.Val594Ala
XR_429316.4:n.4973T>C
NM_001080414.4:c.4700T>C MANE Select	NP_001073883.2:p.Val1567Ala