Canonical Allele Identifier: CA487828563
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739086G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272742G>C , CM000676.2:g.91272742G>C GRCh38
NC_000014.8:g.91739086G>C , CM000676.1:g.91739086G>C GRCh37
NC_000014.7:g.90808839G>C NCBI36
NG_033118.1:g.150103C>G
NG_033118.2:g.150103C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5970C>G MANE Select ENSP00000374507.6:p.Pro1990=
ENST00000331194.8:c.1404C>G ENSP00000330332.8:p.Pro468=
ENST00000389857.10:c.5970C>G ENSP00000374507.6:p.Pro1990=
ENST00000556726.5:c.2198C>G
NM_001080414.3:c.5970C>G NP_001073883.2:p.Pro1990=
XM_011536796.1:c.5862C>G XP_011535098.1:p.Pro1954=
XM_011536796.2:c.5862C>G XP_011535098.1:p.Pro1954=
XM_017021336.1:c.3051C>G XP_016876825.1:p.Pro1017=
NM_001080414.4:c.5970C>G MANE Select NP_001073883.2:p.Pro1990=