Canonical Allele Identifier: CA771357

Gene: SNIP1

Linked Data

• ClinVar Variation Id: 433084
• ClinVar RCV Id: RCV000655967 ; RCV001857031 ; RCV002481593
• dbSNP Id: rs202020647
• ExAC: 1:38006353 G / A
• gnomAD v2: 1-38006353-G-A
• gnomAD v3: 1-37540752-G-A
• gnomAD v4: 1-37540752-G-A
• COSMIC: COSM2081915
• MyVariant Identifiers: chr1:g.38006353G>A (hg19) ; chr1:g.37540752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37540752G>A , CM000663.2:g.37540752G>A	GRCh38
NC_000001.10:g.38006353G>A , CM000663.1:g.38006353G>A	GRCh37
NC_000001.9:g.37778940G>A	NCBI36
NG_032170.1:g.18593C>T
NG_032170.2:g.18593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296215.8:c.331C>T MANE Select	ENSP00000296215.5:p.Arg111Cys
ENST00000468040.2:c.*105C>T	ENSP00000492185.1:n.*105C>T
ENST00000638725.1:n.843C>T
ENST00000296215.6:c.331C>T	ENSP00000296215.5:p.Arg111Cys
ENST00000468040.1:n.331C>T
NM_024700.3:c.331C>T	NP_078976.2:p.Arg111Cys
XM_011542160.1:c.88C>T	XP_011540462.1:p.Arg30Cys
NM_024700.4:c.331C>T MANE Select	NP_078976.2:p.Arg111Cys