Canonical Allele Identifier: CA390610659

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739852A>G (hg19) ; chr14:g.91273508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273508A>G , CM000676.2:g.91273508A>G	GRCh38
NC_000014.8:g.91739852A>G , CM000676.1:g.91739852A>G	GRCh37
NC_000014.7:g.90809605A>G	NCBI36
NG_033118.1:g.149337T>C
NG_033118.2:g.149337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5204T>C MANE Select	ENSP00000374507.6:p.Met1735Thr
ENST00000331194.8:c.776T>C	ENSP00000330332.8:p.Met259Thr
ENST00000334448.5:n.1016T>C
ENST00000389857.10:c.5204T>C	ENSP00000374507.6:p.Met1735Thr
ENST00000556726.5:c.1432T>C
NM_001080414.3:c.5204T>C	NP_001073883.2:p.Met1735Thr
XM_011536796.1:c.5096T>C	XP_011535098.1:p.Met1699Thr
XR_429316.2:n.5479T>C
XM_011536796.2:c.5096T>C	XP_011535098.1:p.Met1699Thr
XM_017021336.1:c.2285T>C	XP_016876825.1:p.Met762Thr
XR_429316.4:n.5477T>C
NM_001080414.4:c.5204T>C MANE Select	NP_001073883.2:p.Met1735Thr