Canonical Allele Identifier: CA390608498

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739153A>C (hg19) ; chr14:g.91272809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272809A>C , CM000676.2:g.91272809A>C	GRCh38
NC_000014.8:g.91739153A>C , CM000676.1:g.91739153A>C	GRCh37
NC_000014.7:g.90808906A>C	NCBI36
NG_033118.1:g.150036T>G
NG_033118.2:g.150036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5903T>G MANE Select	ENSP00000374507.6:p.Val1968Gly
ENST00000331194.8:c.1337T>G	ENSP00000330332.8:p.Val446Gly
ENST00000389857.10:c.5903T>G	ENSP00000374507.6:p.Val1968Gly
ENST00000556726.5:c.2131T>G
NM_001080414.3:c.5903T>G	NP_001073883.2:p.Val1968Gly
XM_011536796.1:c.5795T>G	XP_011535098.1:p.Val1932Gly
XM_011536796.2:c.5795T>G	XP_011535098.1:p.Val1932Gly
XM_017021336.1:c.2984T>G	XP_016876825.1:p.Val995Gly
NM_001080414.4:c.5903T>G MANE Select	NP_001073883.2:p.Val1968Gly