Canonical Allele Identifier: CA9135781
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330471
ClinVar RCV Id: RCV000262513 RCV000297870 RCV000355101 RCV002502281 RCV003352840
dbSNP Id: rs767160876
ExAC: 19:7166398 G / A
gnomAD v2: 19-7166398-G-A
gnomAD v3: 19-7166387-G-A
gnomAD v4: 19-7166387-G-A
COSMIC: COSM5350547 COSM5350548
MyVariant Identifiers: chr19:g.7166398G>A (hg19) chr19:g.7166387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7166387G>A , CM000681.2:g.7166387G>A GRCh38
NC_000019.9:g.7166398G>A , CM000681.1:g.7166398G>A GRCh37
NC_000019.8:g.7117398G>A NCBI36
NG_008852.2:g.132614C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1628C>T MANE Select ENSP00000303830.4:p.Thr543Met
ENST00000302850.9:c.1628C>T ENSP00000303830.4:p.Thr543Met
ENST00000341500.9:c.1628C>T ENSP00000342838.4:p.Thr543Met
ENST00000598216.1:n.1603C>T
ENST00000600492.1:c.29C>T ENSP00000473170.1:p.Thr10Met
NM_000208.2:c.1628C>T NP_000199.2:p.Thr543Met
NM_000208.3:c.1628C>T NP_000199.2:p.Thr543Met
NM_001079817.1:c.1628C>T NP_001073285.1:p.Thr543Met
NM_001079817.2:c.1628C>T NP_001073285.1:p.Thr543Met
XM_011527988.1:c.1706C>T XP_011526290.1:p.Thr569Met
XM_011527989.1:c.1706C>T XP_011526291.1:p.Thr569Met
XM_011527988.2:c.1628C>T XP_011526290.2:p.Thr543Met
XM_011527989.3:c.1628C>T XP_011526291.2:p.Thr543Met
NM_000208.4:c.1628C>T MANE Select NP_000199.2:p.Thr543Met
NM_001079817.3:c.1628C>T NP_001073285.1:p.Thr543Met
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