Canonical Allele Identifier: CA487828597
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739206C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272862C>A , CM000676.2:g.91272862C>A GRCh38
NC_000014.8:g.91739206C>A , CM000676.1:g.91739206C>A GRCh37
NC_000014.7:g.90808959C>A NCBI36
NG_033118.1:g.149983G>T
NG_033118.2:g.149983G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5850G>T MANE Select ENSP00000374507.6:p.Val1950=
ENST00000331194.8:c.1284G>T ENSP00000330332.8:p.Val428=
ENST00000389857.10:c.5850G>T ENSP00000374507.6:p.Val1950=
ENST00000556726.5:c.2078G>T
NM_001080414.3:c.5850G>T NP_001073883.2:p.Val1950=
XM_011536796.1:c.5742G>T XP_011535098.1:p.Val1914=
XM_011536796.2:c.5742G>T XP_011535098.1:p.Val1914=
XM_017021336.1:c.2931G>T XP_016876825.1:p.Val977=
NM_001080414.4:c.5850G>T MANE Select NP_001073883.2:p.Val1950=