Canonical Allele Identifier: CA304866480

Gene: INSR

Linked Data

• dbSNP Id: rs374120246
• gnomAD v3: 19-7117190-C-T
• gnomAD v4: 19-7117190-C-T
• MyVariant Identifiers: chr19:g.7117201C>T (hg19) ; chr19:g.7117190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117190C>T , CM000681.2:g.7117190C>T	GRCh38
NC_000019.9:g.7117201C>T , CM000681.1:g.7117201C>T	GRCh37
NC_000019.8:g.7068201C>T	NCBI36
NG_008852.2:g.181811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4015G>A MANE Select	ENSP00000303830.4:p.Glu1339Lys
ENST00000302850.9:c.4015G>A	ENSP00000303830.4:p.Glu1339Lys
ENST00000341500.9:c.3979G>A	ENSP00000342838.4:p.Glu1327Lys
NM_000208.2:c.4015G>A	NP_000199.2:p.Glu1339Lys
NM_000208.3:c.4015G>A	NP_000199.2:p.Glu1339Lys
NM_001079817.1:c.3979G>A	NP_001073285.1:p.Glu1327Lys
NM_001079817.2:c.3979G>A	NP_001073285.1:p.Glu1327Lys
XM_011527988.1:c.4090G>A	XP_011526290.1:p.Glu1364Lys
XM_011527989.1:c.4054G>A	XP_011526291.1:p.Glu1352Lys
XM_011527988.2:c.4012G>A	XP_011526290.2:p.Glu1338Lys
XM_011527989.3:c.3976G>A	XP_011526291.2:p.Glu1326Lys
NM_000208.4:c.4015G>A MANE Select	NP_000199.2:p.Glu1339Lys
NM_001079817.3:c.3979G>A	NP_001073285.1:p.Glu1327Lys