Canonical Allele Identifier: CA390613286

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1257283252
• gnomAD v3: 14-91281493-A-G
• gnomAD v4: 14-91281493-A-G
• MyVariant Identifiers: chr14:g.91747837A>G (hg19) ; chr14:g.91281493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281493A>G , CM000676.2:g.91281493A>G	GRCh38
NC_000014.8:g.91747837A>G , CM000676.1:g.91747837A>G	GRCh37
NC_000014.7:g.90817590A>G	NCBI36
NG_033118.1:g.141352T>C
NG_033118.2:g.141352T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4663T>C MANE Select	ENSP00000374507.6:p.Ser1555Pro
ENST00000331194.8:c.235T>C	ENSP00000330332.8:p.Ser79Pro
ENST00000334448.5:n.328T>C
ENST00000389857.10:c.4663T>C	ENSP00000374507.6:p.Ser1555Pro
ENST00000556726.5:c.891T>C
NM_001080414.3:c.4663T>C	NP_001073883.2:p.Ser1555Pro
XM_011536796.1:c.4555T>C	XP_011535098.1:p.Ser1519Pro
XR_429316.2:n.4791T>C
XR_943459.1:n.4791T>C
XM_011536796.2:c.4555T>C	XP_011535098.1:p.Ser1519Pro
XM_017021335.2:c.4663T>C	XP_016876824.1:p.Ser1555Pro
XM_017021336.1:c.1744T>C	XP_016876825.1:p.Ser582Pro
XR_429316.4:n.4789T>C
NM_001080414.4:c.4663T>C MANE Select	NP_001073883.2:p.Ser1555Pro