Canonical Allele Identifier: CA390607934

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91738983A>T (hg19) ; chr14:g.91272639A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272639A>T , CM000676.2:g.91272639A>T	GRCh38
NC_000014.8:g.91738983A>T , CM000676.1:g.91738983A>T	GRCh37
NC_000014.7:g.90808736A>T	NCBI36
NG_033118.1:g.150206T>A
NG_033118.2:g.150206T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6073T>A MANE Select	ENSP00000374507.6:p.Tyr2025Asn
ENST00000331194.8:c.1507T>A	ENSP00000330332.8:p.Tyr503Asn
ENST00000389857.10:c.6073T>A	ENSP00000374507.6:p.Tyr2025Asn
ENST00000556726.5:c.2301T>A
NM_001080414.3:c.6073T>A	NP_001073883.2:p.Tyr2025Asn
XM_011536796.1:c.5965T>A	XP_011535098.1:p.Tyr1989Asn
XM_011536796.2:c.5965T>A	XP_011535098.1:p.Tyr1989Asn
XM_017021336.1:c.3154T>A	XP_016876825.1:p.Tyr1052Asn
NM_001080414.4:c.6073T>A MANE Select	NP_001073883.2:p.Tyr2025Asn