Canonical Allele Identifier: CA390612966

Gene: CCDC88C

Linked Data

• dbSNP Id: rs752247270
• MyVariant Identifiers: chr14:g.91745604G>C (hg19) ; chr14:g.91279260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279260G>C , CM000676.2:g.91279260G>C	GRCh38
NC_000014.8:g.91745604G>C , CM000676.1:g.91745604G>C	GRCh37
NC_000014.7:g.90815357G>C	NCBI36
NG_033118.1:g.143585C>G
NG_033118.2:g.143585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4746C>G MANE Select	ENSP00000374507.6:p.Asn1582Lys
ENST00000331194.8:c.318C>G	ENSP00000330332.8:p.Asn106Lys
ENST00000334448.5:n.558C>G
ENST00000389857.10:c.4746C>G	ENSP00000374507.6:p.Asn1582Lys
ENST00000556726.5:c.974C>G
ENST00000557455.1:n.718C>G
NM_001080414.3:c.4746C>G	NP_001073883.2:p.Asn1582Lys
XM_011536796.1:c.4638C>G	XP_011535098.1:p.Asn1546Lys
XR_429316.2:n.5021C>G
XM_011536796.2:c.4638C>G	XP_011535098.1:p.Asn1546Lys
XM_017021336.1:c.1827C>G	XP_016876825.1:p.Asn609Lys
XR_429316.4:n.5019C>G
NM_001080414.4:c.4746C>G MANE Select	NP_001073883.2:p.Asn1582Lys