Canonical Allele Identifier: CA390613087

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279300-C-A
• MyVariant Identifiers: chr14:g.91745644C>A (hg19) ; chr14:g.91279300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279300C>A , CM000676.2:g.91279300C>A	GRCh38
NC_000014.8:g.91745644C>A , CM000676.1:g.91745644C>A	GRCh37
NC_000014.7:g.90815397C>A	NCBI36
NG_033118.1:g.143545G>T
NG_033118.2:g.143545G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4706G>T MANE Select	ENSP00000374507.6:p.Arg1569Leu
ENST00000331194.8:c.278G>T	ENSP00000330332.8:p.Arg93Leu
ENST00000334448.5:n.518G>T
ENST00000389857.10:c.4706G>T	ENSP00000374507.6:p.Arg1569Leu
ENST00000556726.5:c.934G>T
ENST00000557455.1:n.678G>T
NM_001080414.3:c.4706G>T	NP_001073883.2:p.Arg1569Leu
XM_011536796.1:c.4598G>T	XP_011535098.1:p.Arg1533Leu
XR_429316.2:n.4981G>T
XM_011536796.2:c.4598G>T	XP_011535098.1:p.Arg1533Leu
XM_017021336.1:c.1787G>T	XP_016876825.1:p.Arg596Leu
XR_429316.4:n.4979G>T
NM_001080414.4:c.4706G>T MANE Select	NP_001073883.2:p.Arg1569Leu