Canonical Allele Identifier: CA487828484
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739020C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272676C>A , CM000676.2:g.91272676C>A GRCh38
NC_000014.8:g.91739020C>A , CM000676.1:g.91739020C>A GRCh37
NC_000014.7:g.90808773C>A NCBI36
NG_033118.1:g.150169G>T
NG_033118.2:g.150169G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6036G>T MANE Select ENSP00000374507.6:p.Pro2012=
ENST00000331194.8:c.1470G>T ENSP00000330332.8:p.Pro490=
ENST00000389857.10:c.6036G>T ENSP00000374507.6:p.Pro2012=
ENST00000556726.5:c.2264G>T
NM_001080414.3:c.6036G>T NP_001073883.2:p.Pro2012=
XM_011536796.1:c.5928G>T XP_011535098.1:p.Pro1976=
XM_011536796.2:c.5928G>T XP_011535098.1:p.Pro1976=
XM_017021336.1:c.3117G>T XP_016876825.1:p.Pro1039=
NM_001080414.4:c.6036G>T MANE Select NP_001073883.2:p.Pro2012=