Canonical Allele Identifier: CA390610781

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739909G>T (hg19) ; chr14:g.91273565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273565G>T , CM000676.2:g.91273565G>T	GRCh38
NC_000014.8:g.91739909G>T , CM000676.1:g.91739909G>T	GRCh37
NC_000014.7:g.90809662G>T	NCBI36
NG_033118.1:g.149280C>A
NG_033118.2:g.149280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5147C>A MANE Select	ENSP00000374507.6:p.Pro1716His
ENST00000331194.8:c.719C>A	ENSP00000330332.8:p.Pro240His
ENST00000334448.5:n.959C>A
ENST00000389857.10:c.5147C>A	ENSP00000374507.6:p.Pro1716His
ENST00000556726.5:c.1375C>A
NM_001080414.3:c.5147C>A	NP_001073883.2:p.Pro1716His
XM_011536796.1:c.5039C>A	XP_011535098.1:p.Pro1680His
XR_429316.2:n.5422C>A
XM_011536796.2:c.5039C>A	XP_011535098.1:p.Pro1680His
XM_017021336.1:c.2228C>A	XP_016876825.1:p.Pro743His
XR_429316.4:n.5420C>A
NM_001080414.4:c.5147C>A MANE Select	NP_001073883.2:p.Pro1716His