Canonical Allele Identifier: CA216534086

Gene: STIM1

Linked Data

• ClinVar Variation Id: 1056127
• ClinVar RCV Id: RCV001364907 ; RCV003416268 ; RCV003169838
• dbSNP Id: rs376050145
• gnomAD v2: 11-4112769-G-A
• gnomAD v3: 11-4091539-G-A
• gnomAD v4: 11-4091539-G-A
• MyVariant Identifiers: chr11:g.4112769G>A (hg19) ; chr11:g.4091539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091539G>A , CM000673.2:g.4091539G>A	GRCh38
NC_000011.9:g.4112769G>A , CM000673.1:g.4112769G>A	GRCh37
NC_000011.8:g.4069345G>A	NCBI36
NG_016277.1:g.240837G>A , LRG_164:g.240837G>A
NG_027992.2:g.1846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*213G>A	ENSP00000432210.2:n.*213G>A
ENST00000698910.1:c.1310G>A	ENSP00000514024.1:p.Ser437Asn
ENST00000698911.1:c.1895G>A	ENSP00000514025.1:p.Ser632Asn
ENST00000698912.1:c.*213G>A	ENSP00000514026.1:n.*213G>A
ENST00000698913.1:c.1577G>A	ENSP00000514027.1:p.Ser526Asn
ENST00000698915.1:c.1883G>A	ENSP00000514029.1:p.Ser628Asn
ENST00000698916.1:c.1820G>A	ENSP00000514030.1:p.Ser607Asn
ENST00000698918.1:c.*1537G>A	ENSP00000514031.1:n.*1537G>A
ENST00000698919.1:c.*732G>A	ENSP00000514032.1:n.*732G>A
ENST00000698920.1:n.1099G>A
ENST00000526596.2:c.1892G>A MANE Select	ENSP00000433266.2:p.Ser631Asn
ENST00000300737.8:c.1799G>A	ENSP00000300737.4:p.Ser600Asn
ENST00000526156.1:n.597G>A
ENST00000526596.1:c.1084G>A
ENST00000527651.5:c.*213G>A	ENSP00000436208.1:n.*213G>A
ENST00000533977.5:c.1280G>A	ENSP00000434767.1:p.Ser427Asn
ENST00000616714.4:c.2117G>A	ENSP00000478059.1:p.Ser706Asn
NM_001277961.1:c.2117G>A	NP_001264890.1:p.Ser706Asn
NM_001277962.1:c.*213G>A	NP_001264891.1:n.*213G>A
NM_003156.3:c.1799G>A , LRG_164t1:c.1799G>A	NP_003147.2:p.Ser600Asn
NM_001277962.2:c.*213G>A	NP_001264891.1:n.*213G>A
NM_001277961.3:c.2117G>A	NP_001264890.1:p.Ser706Asn
NM_001382566.1:c.1895G>A	NP_001369495.1:p.Ser632Asn
NM_001382567.1:c.1892G>A MANE Select	NP_001369496.1:p.Ser631Asn
NM_001382568.1:c.1820G>A	NP_001369497.1:p.Ser607Asn
NM_001382569.1:c.1664G>A	NP_001369498.1:p.Ser555Asn
NM_001382570.1:c.1571G>A	NP_001369499.1:p.Ser524Asn
NM_001382571.1:c.1319G>A	NP_001369500.1:p.Ser440Asn
NM_001382575.1:c.1577G>A	NP_001369504.1:p.Ser526Asn
NM_001382576.1:c.1577G>A	NP_001369505.1:p.Ser526Asn
NM_001382577.1:c.1577G>A	NP_001369506.1:p.Ser526Asn
NM_001382578.1:c.*213G>A	NP_001369507.1:n.*213G>A
NM_001382579.1:c.*213G>A	NP_001369508.1:n.*213G>A
NM_001382580.1:c.*213G>A	NP_001369509.1:n.*213G>A
NM_001382581.1:c.1310G>A	NP_001369510.1:p.Ser437Asn
NM_003156.4:c.1799G>A	NP_003147.2:p.Ser600Asn
NR_168436.1:n.1723G>A
NR_168437.1:n.2228G>A
NR_168438.1:n.2050G>A