Canonical Allele Identifier: CA265523969

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278091C>A , CM000676.2:g.91278091C>A	GRCh38
NC_000014.8:g.91744435C>A , CM000676.1:g.91744435C>A	GRCh37
NC_000014.7:g.90814188C>A	NCBI36
NG_033118.1:g.144754G>T
NG_033118.2:g.144754G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4889G>T MANE Select	NP_001073883.2:p.Arg1630Leu
ENST00000389857.11:c.4889G>T MANE Select	ENSP00000374507.6:p.Arg1630Leu
NM_001080414.3:c.4889G>T	NP_001073883.2:p.Arg1630Leu
ENST00000331194.8:c.461G>T	ENSP00000330332.8:p.Arg154Leu
ENST00000334448.5:n.701G>T
ENST00000389857.10:c.4889G>T	ENSP00000374507.6:p.Arg1630Leu
ENST00000556726.5:c.1117G>T
XM_011536796.1:c.4781G>T	XP_011535098.1:p.Arg1594Leu
XM_011536796.2:c.4781G>T	XP_011535098.1:p.Arg1594Leu
XM_017021336.1:c.1970G>T	XP_016876825.1:p.Arg657Leu
XR_429316.2:n.5164G>T
XR_429316.4:n.5162G>T