Canonical Allele Identifier: CA487829281
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1889830157
MyVariant Identifiers: chr14:g.91739800C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273456C>T , CM000676.2:g.91273456C>T GRCh38
NC_000014.8:g.91739800C>T , CM000676.1:g.91739800C>T GRCh37
NC_000014.7:g.90809553C>T NCBI36
NG_033118.1:g.149389G>A
NG_033118.2:g.149389G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5256G>A MANE Select ENSP00000374507.6:p.Lys1752=
ENST00000331194.8:c.828G>A ENSP00000330332.8:p.Lys276=
ENST00000389857.10:c.5256G>A ENSP00000374507.6:p.Lys1752=
ENST00000556726.5:c.1484G>A
NM_001080414.3:c.5256G>A NP_001073883.2:p.Lys1752=
XM_011536796.1:c.5148G>A XP_011535098.1:p.Lys1716=
XM_011536796.2:c.5148G>A XP_011535098.1:p.Lys1716=
XM_017021336.1:c.2337G>A XP_016876825.1:p.Lys779=
NM_001080414.4:c.5256G>A MANE Select NP_001073883.2:p.Lys1752=
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