Canonical Allele Identifier: CA403668469

Gene: INSR

Linked Data

• dbSNP Id: rs1972355242
• gnomAD v4: 19-7117187-C-T
• MyVariant Identifiers: chr19:g.7117198C>T (hg19) ; chr19:g.7117187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117187C>T , CM000681.2:g.7117187C>T	GRCh38
NC_000019.9:g.7117198C>T , CM000681.1:g.7117198C>T	GRCh37
NC_000019.8:g.7068198C>T	NCBI36
NG_008852.2:g.181814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4018G>A MANE Select	ENSP00000303830.4:p.Ala1340Thr
ENST00000302850.9:c.4018G>A	ENSP00000303830.4:p.Ala1340Thr
ENST00000341500.9:c.3982G>A	ENSP00000342838.4:p.Ala1328Thr
NM_000208.2:c.4018G>A	NP_000199.2:p.Ala1340Thr
NM_000208.3:c.4018G>A	NP_000199.2:p.Ala1340Thr
NM_001079817.1:c.3982G>A	NP_001073285.1:p.Ala1328Thr
NM_001079817.2:c.3982G>A	NP_001073285.1:p.Ala1328Thr
XM_011527988.1:c.4093G>A	XP_011526290.1:p.Ala1365Thr
XM_011527989.1:c.4057G>A	XP_011526291.1:p.Ala1353Thr
XM_011527988.2:c.4015G>A	XP_011526290.2:p.Ala1339Thr
XM_011527989.3:c.3979G>A	XP_011526291.2:p.Ala1327Thr
NM_000208.4:c.4018G>A MANE Select	NP_000199.2:p.Ala1340Thr
NM_001079817.3:c.3982G>A	NP_001073285.1:p.Ala1328Thr