Canonical Allele Identifier: CA390610887

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1596009193
• gnomAD v4: 14-91273616-T-C
• MyVariant Identifiers: chr14:g.91739960T>C (hg19) ; chr14:g.91273616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273616T>C , CM000676.2:g.91273616T>C	GRCh38
NC_000014.8:g.91739960T>C , CM000676.1:g.91739960T>C	GRCh37
NC_000014.7:g.90809713T>C	NCBI36
NG_033118.1:g.149229A>G
NG_033118.2:g.149229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5096A>G MANE Select	ENSP00000374507.6:p.Tyr1699Cys
ENST00000331194.8:c.668A>G	ENSP00000330332.8:p.Tyr223Cys
ENST00000334448.5:n.908A>G
ENST00000389857.10:c.5096A>G	ENSP00000374507.6:p.Tyr1699Cys
ENST00000556726.5:c.1324A>G
NM_001080414.3:c.5096A>G	NP_001073883.2:p.Tyr1699Cys
XM_011536796.1:c.4988A>G	XP_011535098.1:p.Tyr1663Cys
XR_429316.2:n.5371A>G
XM_011536796.2:c.4988A>G	XP_011535098.1:p.Tyr1663Cys
XM_017021336.1:c.2177A>G	XP_016876825.1:p.Tyr726Cys
XR_429316.4:n.5369A>G
NM_001080414.4:c.5096A>G MANE Select	NP_001073883.2:p.Tyr1699Cys