Canonical Allele Identifier: CA390608038

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739033C>T (hg19) ; chr14:g.91272689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272689C>T , CM000676.2:g.91272689C>T	GRCh38
NC_000014.8:g.91739033C>T , CM000676.1:g.91739033C>T	GRCh37
NC_000014.7:g.90808786C>T	NCBI36
NG_033118.1:g.150156G>A
NG_033118.2:g.150156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6023G>A MANE Select	ENSP00000374507.6:p.Ser2008Asn
ENST00000331194.8:c.1457G>A	ENSP00000330332.8:p.Ser486Asn
ENST00000389857.10:c.6023G>A	ENSP00000374507.6:p.Ser2008Asn
ENST00000556726.5:c.2251G>A
NM_001080414.3:c.6023G>A	NP_001073883.2:p.Ser2008Asn
XM_011536796.1:c.5915G>A	XP_011535098.1:p.Ser1972Asn
XM_011536796.2:c.5915G>A	XP_011535098.1:p.Ser1972Asn
XM_017021336.1:c.3104G>A	XP_016876825.1:p.Ser1035Asn
NM_001080414.4:c.6023G>A MANE Select	NP_001073883.2:p.Ser2008Asn