Canonical Allele Identifier: CA390612431

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91744448T>A (hg19) ; chr14:g.91278104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278104T>A , CM000676.2:g.91278104T>A	GRCh38
NC_000014.8:g.91744448T>A , CM000676.1:g.91744448T>A	GRCh37
NC_000014.7:g.90814201T>A	NCBI36
NG_033118.1:g.144741A>T
NG_033118.2:g.144741A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4876A>T MANE Select	ENSP00000374507.6:p.Asn1626Tyr
ENST00000331194.8:c.448A>T	ENSP00000330332.8:p.Asn150Tyr
ENST00000334448.5:n.688A>T
ENST00000389857.10:c.4876A>T	ENSP00000374507.6:p.Asn1626Tyr
ENST00000556726.5:c.1104A>T
NM_001080414.3:c.4876A>T	NP_001073883.2:p.Asn1626Tyr
XM_011536796.1:c.4768A>T	XP_011535098.1:p.Asn1590Tyr
XR_429316.2:n.5151A>T
XM_011536796.2:c.4768A>T	XP_011535098.1:p.Asn1590Tyr
XM_017021336.1:c.1957A>T	XP_016876825.1:p.Asn653Tyr
XR_429316.4:n.5149A>T
NM_001080414.4:c.4876A>T MANE Select	NP_001073883.2:p.Asn1626Tyr