Canonical Allele Identifier: CA390610689

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739867G>C (hg19) ; chr14:g.91273523G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273523G>C , CM000676.2:g.91273523G>C	GRCh38
NC_000014.8:g.91739867G>C , CM000676.1:g.91739867G>C	GRCh37
NC_000014.7:g.90809620G>C	NCBI36
NG_033118.1:g.149322C>G
NG_033118.2:g.149322C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5189C>G MANE Select	ENSP00000374507.6:p.Ala1730Gly
ENST00000331194.8:c.761C>G	ENSP00000330332.8:p.Ala254Gly
ENST00000334448.5:n.1001C>G
ENST00000389857.10:c.5189C>G	ENSP00000374507.6:p.Ala1730Gly
ENST00000556726.5:c.1417C>G
NM_001080414.3:c.5189C>G	NP_001073883.2:p.Ala1730Gly
XM_011536796.1:c.5081C>G	XP_011535098.1:p.Ala1694Gly
XR_429316.2:n.5464C>G
XM_011536796.2:c.5081C>G	XP_011535098.1:p.Ala1694Gly
XM_017021336.1:c.2270C>G	XP_016876825.1:p.Ala757Gly
XR_429316.4:n.5462C>G
NM_001080414.4:c.5189C>G MANE Select	NP_001073883.2:p.Ala1730Gly