Canonical Allele Identifier: CA390613281

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91747834G>T (hg19) ; chr14:g.91281490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281490G>T , CM000676.2:g.91281490G>T	GRCh38
NC_000014.8:g.91747834G>T , CM000676.1:g.91747834G>T	GRCh37
NC_000014.7:g.90817587G>T	NCBI36
NG_033118.1:g.141355C>A
NG_033118.2:g.141355C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4666C>A MANE Select	ENSP00000374507.6:p.Leu1556Met
ENST00000331194.8:c.238C>A	ENSP00000330332.8:p.Leu80Met
ENST00000334448.5:n.331C>A
ENST00000389857.10:c.4666C>A	ENSP00000374507.6:p.Leu1556Met
ENST00000556726.5:c.894C>A
NM_001080414.3:c.4666C>A	NP_001073883.2:p.Leu1556Met
XM_011536796.1:c.4558C>A	XP_011535098.1:p.Leu1520Met
XR_429316.2:n.4794C>A
XR_943459.1:n.4794C>A
XM_011536796.2:c.4558C>A	XP_011535098.1:p.Leu1520Met
XM_017021335.2:c.4666C>A	XP_016876824.1:p.Leu1556Met
XM_017021336.1:c.1747C>A	XP_016876825.1:p.Leu583Met
XR_429316.4:n.4792C>A
NM_001080414.4:c.4666C>A MANE Select	NP_001073883.2:p.Leu1556Met