Canonical Allele Identifier: CA390612920

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1890098946
• MyVariant Identifiers: chr14:g.91745591T>A (hg19) ; chr14:g.91279247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279247T>A , CM000676.2:g.91279247T>A	GRCh38
NC_000014.8:g.91745591T>A , CM000676.1:g.91745591T>A	GRCh37
NC_000014.7:g.90815344T>A	NCBI36
NG_033118.1:g.143598A>T
NG_033118.2:g.143598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4759A>T MANE Select	ENSP00000374507.6:p.Asn1587Tyr
ENST00000331194.8:c.331A>T	ENSP00000330332.8:p.Asn111Tyr
ENST00000334448.5:n.571A>T
ENST00000389857.10:c.4759A>T	ENSP00000374507.6:p.Asn1587Tyr
ENST00000556726.5:c.987A>T
ENST00000557455.1:n.731A>T
NM_001080414.3:c.4759A>T	NP_001073883.2:p.Asn1587Tyr
XM_011536796.1:c.4651A>T	XP_011535098.1:p.Asn1551Tyr
XR_429316.2:n.5034A>T
XM_011536796.2:c.4651A>T	XP_011535098.1:p.Asn1551Tyr
XM_017021336.1:c.1840A>T	XP_016876825.1:p.Asn614Tyr
XR_429316.4:n.5032A>T
NM_001080414.4:c.4759A>T MANE Select	NP_001073883.2:p.Asn1587Tyr