Canonical Allele Identifier: CA3937142
Gene: SIM1 HGNC NCBI
SIM1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.100420903G>A
GRCh37 chr6:g.100868779G>A
Revel Score:
ENST00000369208 (MANE Select) 0.131
ENST00000262901 0.131
gnomAD v2:
6:100868779 G / A
gnomAD v3:
6:100420903 G / A
gnomAD v4:
chr6-100420903-G-A
Joint Max Group AF 0.00033236 (NFE)
Genomes Max Group AF 0.00020681 (NFE)
Exomes Max Group AF 0.00033468 (NFE)
ClinVar RCV:
RCV001154902
RCV004548032
ClinVar Variation:
906017
dbSNP:
3734354
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000369208.8:c.1054C>T (SIM1) MANE Select ENSP00000358210.4:p.Pro352Ser
ENST00000262901.4:c.1054C>T (SIM1) ENSP00000262901.4:p.Pro352Ser
ENST00000369208.7:c.1054C>T (SIM1) ENSP00000358210.3:p.Pro352Ser
NM_005068.2:c.1054C>T (SIM1) NP_005059.2:p.Pro352Ser
XM_005267100.2:c.1054C>T (SIM1) XP_005267157.1:p.Pro352Ser
XM_011536072.1:c.1054C>T (SIM1) XP_011534374.1:p.Pro352Ser
XM_011536073.1:c.1054C>T (SIM1) XP_011534375.1:p.Pro352Ser
XR_427994.2:n.490-6215G>A (SIM1-AS1)
XR_942814.1:n.490-6215G>A (SIM1-AS1)
XR_942815.1:n.490-6215G>A (SIM1-AS1)
XM_011536072.2:c.1054C>T (SIM1) XP_011534374.1:p.Pro352Ser
XM_017011197.1:c.1054C>T (SIM1) XP_016866686.1:p.Pro352Ser
XR_942814.3:n.494-6215G>A (SIM1-AS1)
XR_942815.3:n.494-6215G>A (SIM1-AS1)
NM_001374769.1:c.1054C>T (SIM1) NP_001361698.1:p.Pro352Ser
NM_005068.3:c.1054C>T (SIM1) MANE Select NP_005059.2:p.Pro352Ser
Search 100 bp 5'
Search 100 bp 3'