Canonical Allele Identifier: CA3937141
Gene: SIM1 HGNC NCBI
SIM1-AS1 HGNC NCBI
COSMIC:
COSM150146 (not active)
MyVariant.info:
GRCh38 chr6:g.100420903G>T
GRCh37 chr6:g.100868779G>T
Revel Score:
ENST00000369208 (MANE Select) 0.100
ENST00000262901 0.100
gnomAD v2:
6:100868779 G / T
gnomAD v3:
6:100420903 G / T
gnomAD v4:
chr6-100420903-G-T
Joint Max Group AF 0.45538737 (EAS)
Genomes Max Group AF 0.41320772 (EAS)
Exomes Max Group AF 0.45925237 (EAS)
ClinVar RCV:
RCV000405629
RCV001712157
ClinVar Variation:
354681
dbSNP:
3734354
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.100420903G>T , CM000668.2:g.100420903G>T GRCh38
NC_000006.11:g.100868779G>T , CM000668.1:g.100868779G>T GRCh37
NC_000006.10:g.100975500G>T NCBI36
NG_008230.1:g.47773C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369208.8:c.1054C>A (SIM1) MANE Select ENSP00000358210.4:p.Pro352Thr
ENST00000262901.4:c.1054C>A (SIM1) ENSP00000262901.4:p.Pro352Thr
ENST00000369208.7:c.1054C>A (SIM1) ENSP00000358210.3:p.Pro352Thr
NM_005068.2:c.1054C>A (SIM1) NP_005059.2:p.Pro352Thr
XM_005267100.2:c.1054C>A (SIM1) XP_005267157.1:p.Pro352Thr
XM_011536072.1:c.1054C>A (SIM1) XP_011534374.1:p.Pro352Thr
XM_011536073.1:c.1054C>A (SIM1) XP_011534375.1:p.Pro352Thr
XR_427994.2:n.490-6215G>T (SIM1-AS1)
XR_942814.1:n.490-6215G>T (SIM1-AS1)
XR_942815.1:n.490-6215G>T (SIM1-AS1)
XM_011536072.2:c.1054C>A (SIM1) XP_011534374.1:p.Pro352Thr
XM_017011197.1:c.1054C>A (SIM1) XP_016866686.1:p.Pro352Thr
XR_942814.3:n.494-6215G>T (SIM1-AS1)
XR_942815.3:n.494-6215G>T (SIM1-AS1)
NM_001374769.1:c.1054C>A (SIM1) NP_001361698.1:p.Pro352Thr
NM_005068.3:c.1054C>A (SIM1) MANE Select NP_005059.2:p.Pro352Thr
Search 100 bp 5'
Search 100 bp 3'