Canonical Allele Identifier: CA390610835

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273592-G-A
• MyVariant Identifiers: chr14:g.91739936G>A (hg19) ; chr14:g.91273592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273592G>A , CM000676.2:g.91273592G>A	GRCh38
NC_000014.8:g.91739936G>A , CM000676.1:g.91739936G>A	GRCh37
NC_000014.7:g.90809689G>A	NCBI36
NG_033118.1:g.149253C>T
NG_033118.2:g.149253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5120C>T MANE Select	ENSP00000374507.6:p.Pro1707Leu
ENST00000331194.8:c.692C>T	ENSP00000330332.8:p.Pro231Leu
ENST00000334448.5:n.932C>T
ENST00000389857.10:c.5120C>T	ENSP00000374507.6:p.Pro1707Leu
ENST00000556726.5:c.1348C>T
NM_001080414.3:c.5120C>T	NP_001073883.2:p.Pro1707Leu
XM_011536796.1:c.5012C>T	XP_011535098.1:p.Pro1671Leu
XR_429316.2:n.5395C>T
XM_011536796.2:c.5012C>T	XP_011535098.1:p.Pro1671Leu
XM_017021336.1:c.2201C>T	XP_016876825.1:p.Pro734Leu
XR_429316.4:n.5393C>T
NM_001080414.4:c.5120C>T MANE Select	NP_001073883.2:p.Pro1707Leu