Canonical Allele Identifier: CA390612915

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91745590T>G (hg19) ; chr14:g.91279246T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279246T>G , CM000676.2:g.91279246T>G	GRCh38
NC_000014.8:g.91745590T>G , CM000676.1:g.91745590T>G	GRCh37
NC_000014.7:g.90815343T>G	NCBI36
NG_033118.1:g.143599A>C
NG_033118.2:g.143599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4760A>C MANE Select	ENSP00000374507.6:p.Asn1587Thr
ENST00000331194.8:c.332A>C	ENSP00000330332.8:p.Asn111Thr
ENST00000334448.5:n.572A>C
ENST00000389857.10:c.4760A>C	ENSP00000374507.6:p.Asn1587Thr
ENST00000556726.5:c.988A>C
ENST00000557455.1:n.732A>C
NM_001080414.3:c.4760A>C	NP_001073883.2:p.Asn1587Thr
XM_011536796.1:c.4652A>C	XP_011535098.1:p.Asn1551Thr
XR_429316.2:n.5035A>C
XM_011536796.2:c.4652A>C	XP_011535098.1:p.Asn1551Thr
XM_017021336.1:c.1841A>C	XP_016876825.1:p.Asn614Thr
XR_429316.4:n.5033A>C
NM_001080414.4:c.4760A>C MANE Select	NP_001073883.2:p.Asn1587Thr