Canonical Allele Identifier: CA124266
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14709
ClinVar RCV Id: RCV000015824 RCV001851881
dbSNP Id: rs121913157
MyVariant Identifiers: chr19:g.7120750C>T (hg19) chr19:g.7120739C>T (hg38)
PubMed: PMID:1314826 PMID:1890161 PMID:8202531 PMID:27896077
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7120739C>T , CM000681.2:g.7120739C>T GRCh38
NC_000019.9:g.7120750C>T , CM000681.1:g.7120750C>T GRCh37
NC_000019.8:g.7071750C>T NCBI36
NG_008852.2:g.178262G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3540G>A MANE Select ENSP00000303830.4:p.Met1180Ile
ENST00000302850.9:c.3540G>A ENSP00000303830.4:p.Met1180Ile
ENST00000341500.9:c.3504G>A ENSP00000342838.4:p.Met1168Ile
ENST00000601099.1:n.451G>A
NM_000208.2:c.3540G>A NP_000199.2:p.Met1180Ile
NM_000208.3:c.3540G>A NP_000199.2:p.Met1180Ile
NM_001079817.1:c.3504G>A NP_001073285.1:p.Met1168Ile
NM_001079817.2:c.3504G>A NP_001073285.1:p.Met1168Ile
XM_011527988.1:c.3615G>A XP_011526290.1:p.Met1205Ile
XM_011527989.1:c.3579G>A XP_011526291.1:p.Met1193Ile
XM_011527988.2:c.3537G>A XP_011526290.2:p.Met1179Ile
XM_011527989.3:c.3501G>A XP_011526291.2:p.Met1167Ile
NM_000208.4:c.3540G>A MANE Select NP_000199.2:p.Met1180Ile
NM_001079817.3:c.3504G>A NP_001073285.1:p.Met1168Ile
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