Canonical Allele Identifier: CA390608136

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739082G>A (hg19) ; chr14:g.91272738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272738G>A , CM000676.2:g.91272738G>A	GRCh38
NC_000014.8:g.91739082G>A , CM000676.1:g.91739082G>A	GRCh37
NC_000014.7:g.90808835G>A	NCBI36
NG_033118.1:g.150107C>T
NG_033118.2:g.150107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5974C>T MANE Select	ENSP00000374507.6:p.Leu1992Phe
ENST00000331194.8:c.1408C>T	ENSP00000330332.8:p.Leu470Phe
ENST00000389857.10:c.5974C>T	ENSP00000374507.6:p.Leu1992Phe
ENST00000556726.5:c.2202C>T
NM_001080414.3:c.5974C>T	NP_001073883.2:p.Leu1992Phe
XM_011536796.1:c.5866C>T	XP_011535098.1:p.Leu1956Phe
XM_011536796.2:c.5866C>T	XP_011535098.1:p.Leu1956Phe
XM_017021336.1:c.3055C>T	XP_016876825.1:p.Leu1019Phe
NM_001080414.4:c.5974C>T MANE Select	NP_001073883.2:p.Leu1992Phe