Canonical Allele Identifier: CA390623066

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91772114G>C (hg19) ; chr14:g.91305770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305770G>C , CM000676.2:g.91305770G>C	GRCh38
NC_000014.8:g.91772114G>C , CM000676.1:g.91772114G>C	GRCh37
NC_000014.7:g.90841867G>C	NCBI36
NG_033118.1:g.117075C>G
NG_033118.2:g.117075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3352C>G MANE Select	ENSP00000374507.6:p.Leu1118Val
ENST00000389857.10:c.3352C>G	ENSP00000374507.6:p.Leu1118Val
NM_001080414.3:c.3352C>G	NP_001073883.2:p.Leu1118Val
XM_005267691.3:c.3352C>G	XP_005267748.1:p.Leu1118Val
XM_011536796.1:c.3244C>G	XP_011535098.1:p.Leu1082Val
XR_429316.2:n.3480C>G
XR_943459.1:n.3480C>G
XM_005267691.5:c.3352C>G	XP_005267748.1:p.Leu1118Val
XM_011536796.2:c.3244C>G	XP_011535098.1:p.Leu1082Val
XM_017021335.2:c.3352C>G	XP_016876824.1:p.Leu1118Val
XM_017021336.1:c.433C>G	XP_016876825.1:p.Leu145Val
XR_429316.4:n.3478C>G
NM_001080414.4:c.3352C>G MANE Select	NP_001073883.2:p.Leu1118Val