Canonical Allele Identifier: CA390631768

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1891955612
• gnomAD v4: 14-91313732-A-G
• MyVariant Identifiers: chr14:g.91780076A>G (hg19) ; chr14:g.91313732A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313732A>G , CM000676.2:g.91313732A>G	GRCh38
NC_000014.8:g.91780076A>G , CM000676.1:g.91780076A>G	GRCh37
NC_000014.7:g.90849829A>G	NCBI36
NG_033118.1:g.109113T>C
NG_033118.2:g.109113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2084T>C MANE Select	ENSP00000374507.6:p.Leu695Pro
ENST00000389857.10:c.2084T>C	ENSP00000374507.6:p.Leu695Pro
NM_001080414.3:c.2084T>C	NP_001073883.2:p.Leu695Pro
XM_005267691.3:c.2084T>C	XP_005267748.1:p.Leu695Pro
XM_011536796.1:c.1976T>C	XP_011535098.1:p.Leu659Pro
XR_429316.2:n.2212T>C
XR_943459.1:n.2212T>C
XM_005267691.5:c.2084T>C	XP_005267748.1:p.Leu695Pro
XM_011536796.2:c.1976T>C	XP_011535098.1:p.Leu659Pro
XM_017021335.2:c.2084T>C	XP_016876824.1:p.Leu695Pro
XM_017021337.2:c.2084T>C	XP_016876826.1:p.Leu695Pro
XR_429316.4:n.2210T>C
NM_001080414.4:c.2084T>C MANE Select	NP_001073883.2:p.Leu695Pro