Canonical Allele Identifier: CA390610414
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273454G>A , CM000676.2:g.91273454G>A GRCh38
NC_000014.8:g.91739798G>A , CM000676.1:g.91739798G>A GRCh37
NC_000014.7:g.90809551G>A NCBI36
NG_033118.1:g.149391C>T
NG_033118.2:g.149391C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5258C>T MANE Select ENSP00000374507.6:p.Pro1753Leu
ENST00000331194.8:c.830C>T ENSP00000330332.8:p.Pro277Leu
ENST00000389857.10:c.5258C>T ENSP00000374507.6:p.Pro1753Leu
ENST00000556726.5:c.1486C>T
NM_001080414.3:c.5258C>T NP_001073883.2:p.Pro1753Leu
XM_011536796.1:c.5150C>T XP_011535098.1:p.Pro1717Leu
XM_011536796.2:c.5150C>T XP_011535098.1:p.Pro1717Leu
XM_017021336.1:c.2339C>T XP_016876825.1:p.Pro780Leu
NM_001080414.4:c.5258C>T MANE Select NP_001073883.2:p.Pro1753Leu