Canonical Allele Identifier: CA487829244
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739689T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273345T>G , CM000676.2:g.91273345T>G GRCh38
NC_000014.8:g.91739689T>G , CM000676.1:g.91739689T>G GRCh37
NC_000014.7:g.90809442T>G NCBI36
NG_033118.1:g.149500A>C
NG_033118.2:g.149500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5367A>C MANE Select ENSP00000374507.6:p.Pro1789=
ENST00000331194.8:c.924+15A>C ENSP00000330332.8:n.924+15A>C
ENST00000389857.10:c.5367A>C ENSP00000374507.6:p.Pro1789=
ENST00000556726.5:c.1595A>C
NM_001080414.3:c.5367A>C NP_001073883.2:p.Pro1789=
XM_011536796.1:c.5259A>C XP_011535098.1:p.Pro1753=
XM_011536796.2:c.5259A>C XP_011535098.1:p.Pro1753=
XM_017021336.1:c.2448A>C XP_016876825.1:p.Pro816=
NM_001080414.4:c.5367A>C MANE Select NP_001073883.2:p.Pro1789=
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