Canonical Allele Identifier: CA124225
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14687
ClinVar RCV Id: RCV000015801 RCV000015802
dbSNP Id: rs121913139
MyVariant Identifiers: chr19:g.7122673C>T (hg19) chr19:g.7122662C>T (hg38)
PubMed: PMID:1963473 PMID:27896077
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122662C>T , CM000681.2:g.7122662C>T GRCh38
NC_000019.9:g.7122673C>T , CM000681.1:g.7122673C>T GRCh37
NC_000019.8:g.7073673C>T NCBI36
NG_008852.2:g.176339G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3481G>A MANE Select ENSP00000303830.4:p.Ala1161Thr
ENST00000302850.9:c.3481G>A ENSP00000303830.4:p.Ala1161Thr
ENST00000341500.9:c.3445G>A ENSP00000342838.4:p.Ala1149Thr
ENST00000593970.1:n.327G>A
ENST00000601099.1:n.392G>A
NM_000208.2:c.3481G>A NP_000199.2:p.Ala1161Thr
NM_000208.3:c.3481G>A NP_000199.2:p.Ala1161Thr
NM_001079817.1:c.3445G>A NP_001073285.1:p.Ala1149Thr
NM_001079817.2:c.3445G>A NP_001073285.1:p.Ala1149Thr
XM_011527988.1:c.3556G>A XP_011526290.1:p.Ala1186Thr
XM_011527989.1:c.3520G>A XP_011526291.1:p.Ala1174Thr
XM_011527988.2:c.3478G>A XP_011526290.2:p.Ala1160Thr
XM_011527989.3:c.3442G>A XP_011526291.2:p.Ala1148Thr
NM_000208.4:c.3481G>A MANE Select NP_000199.2:p.Ala1161Thr
NM_001079817.3:c.3445G>A NP_001073285.1:p.Ala1149Thr
Search 100 bp 5'
Search 100 bp 3'