Canonical Allele Identifier: CA487828491
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739023G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272679G>T , CM000676.2:g.91272679G>T GRCh38
NC_000014.8:g.91739023G>T , CM000676.1:g.91739023G>T GRCh37
NC_000014.7:g.90808776G>T NCBI36
NG_033118.1:g.150166C>A
NG_033118.2:g.150166C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6033C>A MANE Select ENSP00000374507.6:p.Ser2011=
ENST00000331194.8:c.1467C>A ENSP00000330332.8:p.Ser489=
ENST00000389857.10:c.6033C>A ENSP00000374507.6:p.Ser2011=
ENST00000556726.5:c.2261C>A
NM_001080414.3:c.6033C>A NP_001073883.2:p.Ser2011=
XM_011536796.1:c.5925C>A XP_011535098.1:p.Ser1975=
XM_011536796.2:c.5925C>A XP_011535098.1:p.Ser1975=
XM_017021336.1:c.3114C>A XP_016876825.1:p.Ser1038=
NM_001080414.4:c.6033C>A MANE Select NP_001073883.2:p.Ser2011=