Canonical Allele Identifier: CA390610936

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1290973493
• MyVariant Identifiers: chr14:g.91739984C>T (hg19) ; chr14:g.91273640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273640C>T , CM000676.2:g.91273640C>T	GRCh38
NC_000014.8:g.91739984C>T , CM000676.1:g.91739984C>T	GRCh37
NC_000014.7:g.90809737C>T	NCBI36
NG_033118.1:g.149205G>A
NG_033118.2:g.149205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5072G>A MANE Select	ENSP00000374507.6:p.Cys1691Tyr
ENST00000331194.8:c.644G>A	ENSP00000330332.8:p.Cys215Tyr
ENST00000334448.5:n.884G>A
ENST00000389857.10:c.5072G>A	ENSP00000374507.6:p.Cys1691Tyr
ENST00000556726.5:c.1300G>A
NM_001080414.3:c.5072G>A	NP_001073883.2:p.Cys1691Tyr
XM_011536796.1:c.4964G>A	XP_011535098.1:p.Cys1655Tyr
XR_429316.2:n.5347G>A
XM_011536796.2:c.4964G>A	XP_011535098.1:p.Cys1655Tyr
XM_017021336.1:c.2153G>A	XP_016876825.1:p.Cys718Tyr
XR_429316.4:n.5345G>A
NM_001080414.4:c.5072G>A MANE Select	NP_001073883.2:p.Cys1691Tyr