Canonical Allele Identifier: CA390608050

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739038C>G (hg19) ; chr14:g.91272694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272694C>G , CM000676.2:g.91272694C>G	GRCh38
NC_000014.8:g.91739038C>G , CM000676.1:g.91739038C>G	GRCh37
NC_000014.7:g.90808791C>G	NCBI36
NG_033118.1:g.150151G>C
NG_033118.2:g.150151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6018G>C MANE Select	ENSP00000374507.6:p.Lys2006Asn
ENST00000331194.8:c.1452G>C	ENSP00000330332.8:p.Lys484Asn
ENST00000389857.10:c.6018G>C	ENSP00000374507.6:p.Lys2006Asn
ENST00000556726.5:c.2246G>C
NM_001080414.3:c.6018G>C	NP_001073883.2:p.Lys2006Asn
XM_011536796.1:c.5910G>C	XP_011535098.1:p.Lys1970Asn
XM_011536796.2:c.5910G>C	XP_011535098.1:p.Lys1970Asn
XM_017021336.1:c.3099G>C	XP_016876825.1:p.Lys1033Asn
NM_001080414.4:c.6018G>C MANE Select	NP_001073883.2:p.Lys2006Asn