Canonical Allele Identifier: CA10117086

Gene: SNAP29

Linked Data

• ClinVar Variation Id: 340833
• ClinVar RCV Id: RCV000343944 ; RCV003765975
• dbSNP Id: rs528593119
• ExAC: 22:21224627 G / A
• gnomAD v2: 22-21224627-G-A
• gnomAD v3: 22-20870339-G-A
• gnomAD v4: 22-20870339-G-A
• MyVariant Identifiers: chr22:g.21224627G>A (hg19) ; chr22:g.20870339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20870339G>A , CM000684.2:g.20870339G>A	GRCh38
NC_000022.10:g.21224627G>A , CM000684.1:g.21224627G>A	GRCh37
NC_000022.9:g.19554627G>A	NCBI36
NG_012152.1:g.16336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.240G>A MANE Select	ENSP00000215730.6:p.Glu80=
ENST00000215730.11:c.240G>A	ENSP00000215730.6:p.Glu80=
ENST00000439214.1:c.-40G>A	ENSP00000411095.1:n.-40G>A
ENST00000490458.1:n.270G>A
NM_004782.3:c.240G>A	NP_004773.1:p.Glu80=
NM_004782.4:c.240G>A MANE Select	NP_004773.1:p.Glu80=