Canonical Allele Identifier: CA403668592

Gene: INSR

Linked Data

• ClinVar Variation Id: 1049410
• ClinVar RCV Id: RCV001355492
• dbSNP Id: rs2144790104
• MyVariant Identifiers: chr19:g.7117252C>G (hg19) ; chr19:g.7117241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117241C>G , CM000681.2:g.7117241C>G	GRCh38
NC_000019.9:g.7117252C>G , CM000681.1:g.7117252C>G	GRCh37
NC_000019.8:g.7068252C>G	NCBI36
NG_008852.2:g.181760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3964G>C MANE Select	ENSP00000303830.4:p.Glu1322Gln
ENST00000302850.9:c.3964G>C	ENSP00000303830.4:p.Glu1322Gln
ENST00000341500.9:c.3928G>C	ENSP00000342838.4:p.Glu1310Gln
NM_000208.2:c.3964G>C	NP_000199.2:p.Glu1322Gln
NM_000208.3:c.3964G>C	NP_000199.2:p.Glu1322Gln
NM_001079817.1:c.3928G>C	NP_001073285.1:p.Glu1310Gln
NM_001079817.2:c.3928G>C	NP_001073285.1:p.Glu1310Gln
XM_011527988.1:c.4039G>C	XP_011526290.1:p.Glu1347Gln
XM_011527989.1:c.4003G>C	XP_011526291.1:p.Glu1335Gln
XM_011527988.2:c.3961G>C	XP_011526290.2:p.Glu1321Gln
XM_011527989.3:c.3925G>C	XP_011526291.2:p.Glu1309Gln
NM_000208.4:c.3964G>C MANE Select	NP_000199.2:p.Glu1322Gln
NM_001079817.3:c.3928G>C	NP_001073285.1:p.Glu1310Gln