Canonical Allele Identifier: CA390630756

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313568-G-T
• MyVariant Identifiers: chr14:g.91779912G>T (hg19) ; chr14:g.91313568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313568G>T , CM000676.2:g.91313568G>T	GRCh38
NC_000014.8:g.91779912G>T , CM000676.1:g.91779912G>T	GRCh37
NC_000014.7:g.90849665G>T	NCBI36
NG_033118.1:g.109277C>A
NG_033118.2:g.109277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2248C>A MANE Select	ENSP00000374507.6:p.Leu750Met
ENST00000389857.10:c.2248C>A	ENSP00000374507.6:p.Leu750Met
NM_001080414.3:c.2248C>A	NP_001073883.2:p.Leu750Met
XM_005267691.3:c.2248C>A	XP_005267748.1:p.Leu750Met
XM_011536796.1:c.2140C>A	XP_011535098.1:p.Leu714Met
XR_429316.2:n.2376C>A
XR_943459.1:n.2376C>A
XM_005267691.5:c.2248C>A	XP_005267748.1:p.Leu750Met
XM_011536796.2:c.2140C>A	XP_011535098.1:p.Leu714Met
XM_017021335.2:c.2248C>A	XP_016876824.1:p.Leu750Met
XM_017021337.2:c.2248C>A	XP_016876826.1:p.Leu750Met
XR_429316.4:n.2374C>A
NM_001080414.4:c.2248C>A MANE Select	NP_001073883.2:p.Leu750Met