Canonical Allele Identifier: CA390607931

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91738982T>A (hg19) ; chr14:g.91272638T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272638T>A , CM000676.2:g.91272638T>A	GRCh38
NC_000014.8:g.91738982T>A , CM000676.1:g.91738982T>A	GRCh37
NC_000014.7:g.90808735T>A	NCBI36
NG_033118.1:g.150207A>T
NG_033118.2:g.150207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6074A>T MANE Select	ENSP00000374507.6:p.Tyr2025Phe
ENST00000331194.8:c.1508A>T	ENSP00000330332.8:p.Tyr503Phe
ENST00000389857.10:c.6074A>T	ENSP00000374507.6:p.Tyr2025Phe
ENST00000556726.5:c.2302A>T
NM_001080414.3:c.6074A>T	NP_001073883.2:p.Tyr2025Phe
XM_011536796.1:c.5966A>T	XP_011535098.1:p.Tyr1989Phe
XM_011536796.2:c.5966A>T	XP_011535098.1:p.Tyr1989Phe
XM_017021336.1:c.3155A>T	XP_016876825.1:p.Tyr1052Phe
NM_001080414.4:c.6074A>T MANE Select	NP_001073883.2:p.Tyr2025Phe