Canonical Allele Identifier: CA7308526
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 444336
dbSNP Id: rs201940261

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272686G>A , CM000676.2:g.91272686G>A GRCh38
NC_000014.8:g.91739030G>A , CM000676.1:g.91739030G>A GRCh37
NC_000014.7:g.90808783G>A NCBI36
NG_033118.1:g.150159C>T
NG_033118.2:g.150159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6026C>T MANE Select ENSP00000374507.6:p.Pro2009Leu
ENST00000331194.8:c.1460C>T ENSP00000330332.8:p.Pro487Leu
ENST00000389857.10:c.6026C>T ENSP00000374507.6:p.Pro2009Leu
ENST00000556726.5:c.2254C>T
NM_001080414.3:c.6026C>T NP_001073883.2:p.Pro2009Leu
XM_011536796.1:c.5918C>T XP_011535098.1:p.Pro1973Leu
XM_011536796.2:c.5918C>T XP_011535098.1:p.Pro1973Leu
XM_017021336.1:c.3107C>T XP_016876825.1:p.Pro1036Leu
NM_001080414.4:c.6026C>T MANE Select NP_001073883.2:p.Pro2009Leu