Canonical Allele Identifier: CA411384230

Gene: IFT27 CACNG2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36766137C>T , CM000684.2:g.36766137C>T	GRCh38
NC_000022.10:g.37162181C>T , CM000684.1:g.37162181C>T	GRCh37
NC_000022.9:g.35492127C>T	NCBI36
NG_034205.1:g.14997G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001177701.3:c.234+1G>A (IFT27) MANE Select	NP_001171172.1:n.234+1G>A
ENST00000433985.7:c.234+1G>A (IFT27) MANE Select	ENSP00000393541.2:n.234+1G>A
NM_001177701.2:c.234+1G>A (IFT27)	NP_001171172.1:n.234+1G>A
NM_001363003.1:c.234+1G>A (IFT27)	NP_001349932.1:n.234+1G>A
NM_001363003.2:c.234+1G>A (IFT27)	NP_001349932.1:n.234+1G>A
NM_006860.4:c.231+1G>A (IFT27)	NP_006851.1:n.231+1G>A
NM_006860.5:c.231+1G>A (IFT27)	NP_006851.1:n.231+1G>A
NR_134623.1:n.238-207C>T (CACNG2-DT)
ENST00000340630.9:c.231+1G>A (IFT27)	ENSP00000343593.5:n.231+1G>A
ENST00000415653.5:c.157+1G>A (IFT27)
ENST00000417951.6:c.351+1G>A (IFT27)	ENSP00000392016.2:n.351+1G>A
ENST00000430701.5:c.231+1G>A (IFT27)	ENSP00000390016.1:n.231+1G>A
ENST00000433985.6:c.234+1G>A (IFT27)	ENSP00000393541.2:n.234+1G>A
ENST00000440696.2:c.111+1G>A (IFT27)	ENSP00000399606.2:n.111+1G>A
ENST00000471809.5:n.649+1G>A (IFT27)
ENST00000495555.6:n.317+1G>A (IFT27)
XM_006724106.2:c.234+1G>A (IFT27)	XP_006724169.1:n.234+1G>A
XM_017028540.2:c.111+1G>A (IFT27)	XP_016884029.1:n.111+1G>A