Canonical Allele Identifier: CA390610866

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1889837159
• MyVariant Identifiers: chr14:g.91739951T>A (hg19) ; chr14:g.91273607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273607T>A , CM000676.2:g.91273607T>A	GRCh38
NC_000014.8:g.91739951T>A , CM000676.1:g.91739951T>A	GRCh37
NC_000014.7:g.90809704T>A	NCBI36
NG_033118.1:g.149238A>T
NG_033118.2:g.149238A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5105A>T MANE Select	ENSP00000374507.6:p.Lys1702Met
ENST00000331194.8:c.677A>T	ENSP00000330332.8:p.Lys226Met
ENST00000334448.5:n.917A>T
ENST00000389857.10:c.5105A>T	ENSP00000374507.6:p.Lys1702Met
ENST00000556726.5:c.1333A>T
NM_001080414.3:c.5105A>T	NP_001073883.2:p.Lys1702Met
XM_011536796.1:c.4997A>T	XP_011535098.1:p.Lys1666Met
XR_429316.2:n.5380A>T
XM_011536796.2:c.4997A>T	XP_011535098.1:p.Lys1666Met
XM_017021336.1:c.2186A>T	XP_016876825.1:p.Lys729Met
XR_429316.4:n.5378A>T
NM_001080414.4:c.5105A>T MANE Select	NP_001073883.2:p.Lys1702Met