Canonical Allele Identifier: CA390612428

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91744447T>G (hg19) ; chr14:g.91278103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278103T>G , CM000676.2:g.91278103T>G	GRCh38
NC_000014.8:g.91744447T>G , CM000676.1:g.91744447T>G	GRCh37
NC_000014.7:g.90814200T>G	NCBI36
NG_033118.1:g.144742A>C
NG_033118.2:g.144742A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4877A>C MANE Select	ENSP00000374507.6:p.Asn1626Thr
ENST00000331194.8:c.449A>C	ENSP00000330332.8:p.Asn150Thr
ENST00000334448.5:n.689A>C
ENST00000389857.10:c.4877A>C	ENSP00000374507.6:p.Asn1626Thr
ENST00000556726.5:c.1105A>C
NM_001080414.3:c.4877A>C	NP_001073883.2:p.Asn1626Thr
XM_011536796.1:c.4769A>C	XP_011535098.1:p.Asn1590Thr
XR_429316.2:n.5152A>C
XM_011536796.2:c.4769A>C	XP_011535098.1:p.Asn1590Thr
XM_017021336.1:c.1958A>C	XP_016876825.1:p.Asn653Thr
XR_429316.4:n.5150A>C
NM_001080414.4:c.4877A>C MANE Select	NP_001073883.2:p.Asn1626Thr