Canonical Allele Identifier: CA487829122
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1259273348

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273375C>A , CM000676.2:g.91273375C>A GRCh38
NC_000014.8:g.91739719C>A , CM000676.1:g.91739719C>A GRCh37
NC_000014.7:g.90809472C>A NCBI36
NG_033118.1:g.149470G>T
NG_033118.2:g.149470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5337G>T MANE Select ENSP00000374507.6:p.Leu1779=
ENST00000331194.8:c.909G>T ENSP00000330332.8:p.Leu303=
ENST00000389857.10:c.5337G>T ENSP00000374507.6:p.Leu1779=
ENST00000556726.5:c.1565G>T
NM_001080414.3:c.5337G>T NP_001073883.2:p.Leu1779=
XM_011536796.1:c.5229G>T XP_011535098.1:p.Leu1743=
XM_011536796.2:c.5229G>T XP_011535098.1:p.Leu1743=
XM_017021336.1:c.2418G>T XP_016876825.1:p.Leu806=
NM_001080414.4:c.5337G>T MANE Select NP_001073883.2:p.Leu1779=