Canonical Allele Identifier: CA487829154

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1596009232
• gnomAD v4: 14-91273627-C-T
• MyVariant Identifiers: chr14:g.91739971C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273627C>T , CM000676.2:g.91273627C>T	GRCh38
NC_000014.8:g.91739971C>T , CM000676.1:g.91739971C>T	GRCh37
NC_000014.7:g.90809724C>T	NCBI36
NG_033118.1:g.149218G>A
NG_033118.2:g.149218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5085G>A MANE Select	ENSP00000374507.6:p.Leu1695=
ENST00000331194.8:c.657G>A	ENSP00000330332.8:p.Leu219=
ENST00000334448.5:n.897G>A
ENST00000389857.10:c.5085G>A	ENSP00000374507.6:p.Leu1695=
ENST00000556726.5:c.1313G>A
NM_001080414.3:c.5085G>A	NP_001073883.2:p.Leu1695=
XM_011536796.1:c.4977G>A	XP_011535098.1:p.Leu1659=
XR_429316.2:n.5360G>A
XM_011536796.2:c.4977G>A	XP_011535098.1:p.Leu1659=
XM_017021336.1:c.2166G>A	XP_016876825.1:p.Leu722=
XR_429316.4:n.5358G>A
NM_001080414.4:c.5085G>A MANE Select	NP_001073883.2:p.Leu1695=