Canonical Allele Identifier: CA487828569
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739092C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272748C>T , CM000676.2:g.91272748C>T GRCh38
NC_000014.8:g.91739092C>T , CM000676.1:g.91739092C>T GRCh37
NC_000014.7:g.90808845C>T NCBI36
NG_033118.1:g.150097G>A
NG_033118.2:g.150097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5964G>A MANE Select ENSP00000374507.6:p.Leu1988=
ENST00000331194.8:c.1398G>A ENSP00000330332.8:p.Leu466=
ENST00000389857.10:c.5964G>A ENSP00000374507.6:p.Leu1988=
ENST00000556726.5:c.2192G>A
NM_001080414.3:c.5964G>A NP_001073883.2:p.Leu1988=
XM_011536796.1:c.5856G>A XP_011535098.1:p.Leu1952=
XM_011536796.2:c.5856G>A XP_011535098.1:p.Leu1952=
XM_017021336.1:c.3045G>A XP_016876825.1:p.Leu1015=
NM_001080414.4:c.5964G>A MANE Select NP_001073883.2:p.Leu1988=