Canonical Allele Identifier: CA9135422

Gene: INSR

Linked Data

• dbSNP Id: rs758274960
• ExAC: 19:7128936 T / C
• gnomAD v2: 19-7128936-T-C
• gnomAD v3: 19-7128925-T-C
• gnomAD v4: 19-7128925-T-C
• MyVariant Identifiers: chr19:g.7128936T>C (hg19) ; chr19:g.7128925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7128925T>C , CM000681.2:g.7128925T>C	GRCh38
NC_000019.9:g.7128936T>C , CM000681.1:g.7128936T>C	GRCh37
NC_000019.8:g.7079936T>C	NCBI36
NG_008852.2:g.170076A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2872A>G MANE Select	ENSP00000303830.4:p.Ile958Val
ENST00000302850.9:c.2872A>G	ENSP00000303830.4:p.Ile958Val
ENST00000341500.9:c.2836A>G	ENSP00000342838.4:p.Ile946Val
NM_000208.2:c.2872A>G	NP_000199.2:p.Ile958Val
NM_000208.3:c.2872A>G	NP_000199.2:p.Ile958Val
NM_001079817.1:c.2836A>G	NP_001073285.1:p.Ile946Val
NM_001079817.2:c.2836A>G	NP_001073285.1:p.Ile946Val
XM_011527988.1:c.2947A>G	XP_011526290.1:p.Ile983Val
XM_011527989.1:c.2911A>G	XP_011526291.1:p.Ile971Val
XM_011527988.2:c.2869A>G	XP_011526290.2:p.Ile957Val
XM_011527989.3:c.2833A>G	XP_011526291.2:p.Ile945Val
NM_000208.4:c.2872A>G MANE Select	NP_000199.2:p.Ile958Val
NM_001079817.3:c.2836A>G	NP_001073285.1:p.Ile946Val