Canonical Allele Identifier: CA265518127

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1052774610
• gnomAD v2: 14-91739699-G-A
• gnomAD v3: 14-91273355-G-A
• gnomAD v4: 14-91273355-G-A
• MyVariant Identifiers: chr14:g.91739699G>A (hg19) ; chr14:g.91273355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273355G>A , CM000676.2:g.91273355G>A	GRCh38
NC_000014.8:g.91739699G>A , CM000676.1:g.91739699G>A	GRCh37
NC_000014.7:g.90809452G>A	NCBI36
NG_033118.1:g.149490C>T
NG_033118.2:g.149490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5357C>T MANE Select	ENSP00000374507.6:p.Pro1786Leu
ENST00000331194.8:c.924+5C>T	ENSP00000330332.8:n.924+5C>T
ENST00000389857.10:c.5357C>T	ENSP00000374507.6:p.Pro1786Leu
ENST00000556726.5:c.1585C>T
NM_001080414.3:c.5357C>T	NP_001073883.2:p.Pro1786Leu
XM_011536796.1:c.5249C>T	XP_011535098.1:p.Pro1750Leu
XM_011536796.2:c.5249C>T	XP_011535098.1:p.Pro1750Leu
XM_017021336.1:c.2438C>T	XP_016876825.1:p.Pro813Leu
NM_001080414.4:c.5357C>T MANE Select	NP_001073883.2:p.Pro1786Leu