Canonical Allele Identifier: CA487828631

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2790902
• ClinVar RCV Id: RCV003672150
• dbSNP Id: rs1889792518
• MyVariant Identifiers: chr14:g.91739131C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272787C>T , CM000676.2:g.91272787C>T	GRCh38
NC_000014.8:g.91739131C>T , CM000676.1:g.91739131C>T	GRCh37
NC_000014.7:g.90808884C>T	NCBI36
NG_033118.1:g.150058G>A
NG_033118.2:g.150058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5925G>A MANE Select	ENSP00000374507.6:p.Glu1975=
ENST00000331194.8:c.1359G>A	ENSP00000330332.8:p.Glu453=
ENST00000389857.10:c.5925G>A	ENSP00000374507.6:p.Glu1975=
ENST00000556726.5:c.2153G>A
NM_001080414.3:c.5925G>A	NP_001073883.2:p.Glu1975=
XM_011536796.1:c.5817G>A	XP_011535098.1:p.Glu1939=
XM_011536796.2:c.5817G>A	XP_011535098.1:p.Glu1939=
XM_017021336.1:c.3006G>A	XP_016876825.1:p.Glu1002=
NM_001080414.4:c.5925G>A MANE Select	NP_001073883.2:p.Glu1975=