Canonical Allele Identifier: CA390610759

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739899T>A (hg19) ; chr14:g.91273555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273555T>A , CM000676.2:g.91273555T>A	GRCh38
NC_000014.8:g.91739899T>A , CM000676.1:g.91739899T>A	GRCh37
NC_000014.7:g.90809652T>A	NCBI36
NG_033118.1:g.149290A>T
NG_033118.2:g.149290A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5157A>T MANE Select	ENSP00000374507.6:p.Lys1719Asn
ENST00000331194.8:c.729A>T	ENSP00000330332.8:p.Lys243Asn
ENST00000334448.5:n.969A>T
ENST00000389857.10:c.5157A>T	ENSP00000374507.6:p.Lys1719Asn
ENST00000556726.5:c.1385A>T
NM_001080414.3:c.5157A>T	NP_001073883.2:p.Lys1719Asn
XM_011536796.1:c.5049A>T	XP_011535098.1:p.Lys1683Asn
XR_429316.2:n.5432A>T
XM_011536796.2:c.5049A>T	XP_011535098.1:p.Lys1683Asn
XM_017021336.1:c.2238A>T	XP_016876825.1:p.Lys746Asn
XR_429316.4:n.5430A>T
NM_001080414.4:c.5157A>T MANE Select	NP_001073883.2:p.Lys1719Asn