Canonical Allele Identifier: CA9135111

Gene: INSR

Linked Data

• dbSNP Id: rs374098153
• ExAC: 19:7117225 G / C
• gnomAD v2: 19-7117225-G-C
• MyVariant Identifiers: chr19:g.7117225G>C (hg19) ; chr19:g.7117214G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117214G>C , CM000681.2:g.7117214G>C	GRCh38
NC_000019.9:g.7117225G>C , CM000681.1:g.7117225G>C	GRCh37
NC_000019.8:g.7068225G>C	NCBI36
NG_008852.2:g.181787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3991C>G MANE Select	ENSP00000303830.4:p.Arg1331Gly
ENST00000302850.9:c.3991C>G	ENSP00000303830.4:p.Arg1331Gly
ENST00000341500.9:c.3955C>G	ENSP00000342838.4:p.Arg1319Gly
NM_000208.2:c.3991C>G	NP_000199.2:p.Arg1331Gly
NM_000208.3:c.3991C>G	NP_000199.2:p.Arg1331Gly
NM_001079817.1:c.3955C>G	NP_001073285.1:p.Arg1319Gly
NM_001079817.2:c.3955C>G	NP_001073285.1:p.Arg1319Gly
XM_011527988.1:c.4066C>G	XP_011526290.1:p.Arg1356Gly
XM_011527989.1:c.4030C>G	XP_011526291.1:p.Arg1344Gly
XM_011527988.2:c.3988C>G	XP_011526290.2:p.Arg1330Gly
XM_011527989.3:c.3952C>G	XP_011526291.2:p.Arg1318Gly
NM_000208.4:c.3991C>G MANE Select	NP_000199.2:p.Arg1331Gly
NM_001079817.3:c.3955C>G	NP_001073285.1:p.Arg1319Gly