Canonical Allele Identifier: CA10116981

Gene: SNAP29 PI4KA

Linked Data

• ClinVar Variation Id: 340829
• ClinVar RCV Id: RCV000283266 ; RCV003678995
• dbSNP Id: rs770386845
• ExAC: 22:21213404 A / G
• gnomAD v2: 22-21213404-A-G
• gnomAD v3: 22-20859116-A-G
• gnomAD v4: 22-20859116-A-G
• MyVariant Identifiers: chr22:g.21213404A>G (hg19) ; chr22:g.20859116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20859116A>G , CM000684.2:g.20859116A>G	GRCh38
NC_000022.10:g.21213404A>G , CM000684.1:g.21213404A>G	GRCh37
NC_000022.9:g.19543404A>G	NCBI36
NG_012152.1:g.5113A>G
NG_033052.1:g.4697T>C
NG_033052.2:g.4697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.6A>G (SNAP29) MANE Select	ENSP00000215730.6:p.Ser2=
ENST00000215730.11:c.6A>G (SNAP29)	ENSP00000215730.6:p.Ser2=
ENST00000449120.1:c.-19+7T>C (PI4KA)	ENSP00000402437.1:n.-19+7T>C
ENST00000490458.1:n.36A>G (SNAP29)
NM_004782.3:c.6A>G (SNAP29)	NP_004773.1:p.Ser2=
NM_004782.4:c.6A>G (SNAP29) MANE Select	NP_004773.1:p.Ser2=