Canonical Allele Identifier: CA265525190
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs540907763

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279264C>T , CM000676.2:g.91279264C>T GRCh38
NC_000014.8:g.91745608C>T , CM000676.1:g.91745608C>T GRCh37
NC_000014.7:g.90815361C>T NCBI36
NG_033118.1:g.143581G>A
NG_033118.2:g.143581G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.4742G>A MANE Select ENSP00000374507.6:p.Ser1581Asn
ENST00000331194.8:c.314G>A ENSP00000330332.8:p.Ser105Asn
ENST00000334448.5:n.554G>A
ENST00000389857.10:c.4742G>A ENSP00000374507.6:p.Ser1581Asn
ENST00000556726.5:c.970G>A
ENST00000557455.1:n.714G>A
NM_001080414.3:c.4742G>A NP_001073883.2:p.Ser1581Asn
XM_011536796.1:c.4634G>A XP_011535098.1:p.Ser1545Asn
XR_429316.2:n.5017G>A
XM_011536796.2:c.4634G>A XP_011535098.1:p.Ser1545Asn
XM_017021336.1:c.1823G>A XP_016876825.1:p.Ser608Asn
XR_429316.4:n.5015G>A
NM_001080414.4:c.4742G>A MANE Select NP_001073883.2:p.Ser1581Asn