Canonical Allele Identifier: CA390610963

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739996T>G (hg19) ; chr14:g.91273652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273652T>G , CM000676.2:g.91273652T>G	GRCh38
NC_000014.8:g.91739996T>G , CM000676.1:g.91739996T>G	GRCh37
NC_000014.7:g.90809749T>G	NCBI36
NG_033118.1:g.149193A>C
NG_033118.2:g.149193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5060A>C MANE Select	ENSP00000374507.6:p.Asp1687Ala
ENST00000331194.8:c.632A>C	ENSP00000330332.8:p.Asp211Ala
ENST00000334448.5:n.872A>C
ENST00000389857.10:c.5060A>C	ENSP00000374507.6:p.Asp1687Ala
ENST00000556726.5:c.1288A>C
NM_001080414.3:c.5060A>C	NP_001073883.2:p.Asp1687Ala
XM_011536796.1:c.4952A>C	XP_011535098.1:p.Asp1651Ala
XR_429316.2:n.5335A>C
XM_011536796.2:c.4952A>C	XP_011535098.1:p.Asp1651Ala
XM_017021336.1:c.2141A>C	XP_016876825.1:p.Asp714Ala
XR_429316.4:n.5333A>C
NM_001080414.4:c.5060A>C MANE Select	NP_001073883.2:p.Asp1687Ala