Canonical Allele Identifier: CA7308958

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91283421G>A , CM000676.2:g.91283421G>A	GRCh38
NC_000014.8:g.91749765G>A , CM000676.1:g.91749765G>A	GRCh37
NC_000014.7:g.90819518G>A	NCBI36
NG_033118.1:g.139424C>T
NG_033118.2:g.139424C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4538C>T MANE Select	NP_001073883.2:p.Ser1513Leu
ENST00000389857.11:c.4538C>T MANE Select	ENSP00000374507.6:p.Ser1513Leu
NM_001080414.3:c.4538C>T	NP_001073883.2:p.Ser1513Leu
ENST00000331194.8:c.110C>T	ENSP00000330332.8:p.Ser37Leu
ENST00000334448.5:n.203C>T
ENST00000389857.10:c.4538C>T	ENSP00000374507.6:p.Ser1513Leu
ENST00000556726.5:c.766C>T
XM_011536796.1:c.4430C>T	XP_011535098.1:p.Ser1477Leu
XM_011536796.2:c.4430C>T	XP_011535098.1:p.Ser1477Leu
XM_017021335.2:c.4538C>T	XP_016876824.1:p.Ser1513Leu
XM_017021336.1:c.1619C>T	XP_016876825.1:p.Ser540Leu
XR_429316.2:n.4666C>T
XR_429316.4:n.4664C>T
XR_943459.1:n.4666C>T