Canonical Allele Identifier: CA390608611
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739172G>C (hg19) chr14:g.91272828G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272828G>C , CM000676.2:g.91272828G>C GRCh38
NC_000014.8:g.91739172G>C , CM000676.1:g.91739172G>C GRCh37
NC_000014.7:g.90808925G>C NCBI36
NG_033118.1:g.150017C>G
NG_033118.2:g.150017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5884C>G MANE Select ENSP00000374507.6:p.Leu1962Val
ENST00000331194.8:c.1318C>G ENSP00000330332.8:p.Leu440Val
ENST00000389857.10:c.5884C>G ENSP00000374507.6:p.Leu1962Val
ENST00000556726.5:c.2112C>G
NM_001080414.3:c.5884C>G NP_001073883.2:p.Leu1962Val
XM_011536796.1:c.5776C>G XP_011535098.1:p.Leu1926Val
XM_011536796.2:c.5776C>G XP_011535098.1:p.Leu1926Val
XM_017021336.1:c.2965C>G XP_016876825.1:p.Leu989Val
NM_001080414.4:c.5884C>G MANE Select NP_001073883.2:p.Leu1962Val
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