Canonical Allele Identifier: CA9135875

Gene: INSR

Linked Data

• dbSNP Id: rs771075792
• ExAC: 19:7172301 C / T
• gnomAD v2: 19-7172301-C-T
• gnomAD v4: 19-7172290-C-T
• MyVariant Identifiers: chr19:g.7172301C>T (hg19) ; chr19:g.7172290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172290C>T , CM000681.2:g.7172290C>T	GRCh38
NC_000019.9:g.7172301C>T , CM000681.1:g.7172301C>T	GRCh37
NC_000019.8:g.7123301C>T	NCBI36
NG_008852.2:g.126711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1268G>A MANE Select	ENSP00000303830.4:p.Gly423Glu
ENST00000302850.9:c.1268G>A	ENSP00000303830.4:p.Gly423Glu
ENST00000341500.9:c.1268G>A	ENSP00000342838.4:p.Gly423Glu
ENST00000598216.1:n.1243G>A
NM_000208.2:c.1268G>A	NP_000199.2:p.Gly423Glu
NM_000208.3:c.1268G>A	NP_000199.2:p.Gly423Glu
NM_001079817.1:c.1268G>A	NP_001073285.1:p.Gly423Glu
NM_001079817.2:c.1268G>A	NP_001073285.1:p.Gly423Glu
XM_011527988.1:c.1346G>A	XP_011526290.1:p.Gly449Glu
XM_011527989.1:c.1346G>A	XP_011526291.1:p.Gly449Glu
XM_011527988.2:c.1268G>A	XP_011526290.2:p.Gly423Glu
XM_011527989.3:c.1268G>A	XP_011526291.2:p.Gly423Glu
NM_000208.4:c.1268G>A MANE Select	NP_000199.2:p.Gly423Glu
NM_001079817.3:c.1268G>A	NP_001073285.1:p.Gly423Glu