Canonical Allele Identifier: CA487829192

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739992A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273648A>C , CM000676.2:g.91273648A>C	GRCh38
NC_000014.8:g.91739992A>C , CM000676.1:g.91739992A>C	GRCh37
NC_000014.7:g.90809745A>C	NCBI36
NG_033118.1:g.149197T>G
NG_033118.2:g.149197T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5064T>G MANE Select	ENSP00000374507.6:p.Thr1688=
ENST00000331194.8:c.636T>G	ENSP00000330332.8:p.Thr212=
ENST00000334448.5:n.876T>G
ENST00000389857.10:c.5064T>G	ENSP00000374507.6:p.Thr1688=
ENST00000556726.5:c.1292T>G
NM_001080414.3:c.5064T>G	NP_001073883.2:p.Thr1688=
XM_011536796.1:c.4956T>G	XP_011535098.1:p.Thr1652=
XR_429316.2:n.5339T>G
XM_011536796.2:c.4956T>G	XP_011535098.1:p.Thr1652=
XM_017021336.1:c.2145T>G	XP_016876825.1:p.Thr715=
XR_429316.4:n.5337T>G
NM_001080414.4:c.5064T>G MANE Select	NP_001073883.2:p.Thr1688=