Canonical Allele Identifier: CA390612909

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91745589G>T (hg19) ; chr14:g.91279245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279245G>T , CM000676.2:g.91279245G>T	GRCh38
NC_000014.8:g.91745589G>T , CM000676.1:g.91745589G>T	GRCh37
NC_000014.7:g.90815342G>T	NCBI36
NG_033118.1:g.143600C>A
NG_033118.2:g.143600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4761C>A MANE Select	ENSP00000374507.6:p.Asn1587Lys
ENST00000331194.8:c.333C>A	ENSP00000330332.8:p.Asn111Lys
ENST00000334448.5:n.573C>A
ENST00000389857.10:c.4761C>A	ENSP00000374507.6:p.Asn1587Lys
ENST00000556726.5:c.989C>A
ENST00000557455.1:n.733C>A
NM_001080414.3:c.4761C>A	NP_001073883.2:p.Asn1587Lys
XM_011536796.1:c.4653C>A	XP_011535098.1:p.Asn1551Lys
XR_429316.2:n.5036C>A
XM_011536796.2:c.4653C>A	XP_011535098.1:p.Asn1551Lys
XM_017021336.1:c.1842C>A	XP_016876825.1:p.Asn614Lys
XR_429316.4:n.5034C>A
NM_001080414.4:c.4761C>A MANE Select	NP_001073883.2:p.Asn1587Lys