Canonical Allele Identifier: CA390608473

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739148C>A (hg19) ; chr14:g.91272804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272804C>A , CM000676.2:g.91272804C>A	GRCh38
NC_000014.8:g.91739148C>A , CM000676.1:g.91739148C>A	GRCh37
NC_000014.7:g.90808901C>A	NCBI36
NG_033118.1:g.150041G>T
NG_033118.2:g.150041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5908G>T MANE Select	ENSP00000374507.6:p.Gly1970Trp
ENST00000331194.8:c.1342G>T	ENSP00000330332.8:p.Gly448Trp
ENST00000389857.10:c.5908G>T	ENSP00000374507.6:p.Gly1970Trp
ENST00000556726.5:c.2136G>T
NM_001080414.3:c.5908G>T	NP_001073883.2:p.Gly1970Trp
XM_011536796.1:c.5800G>T	XP_011535098.1:p.Gly1934Trp
XM_011536796.2:c.5800G>T	XP_011535098.1:p.Gly1934Trp
XM_017021336.1:c.2989G>T	XP_016876825.1:p.Gly997Trp
NM_001080414.4:c.5908G>T MANE Select	NP_001073883.2:p.Gly1970Trp