Canonical Allele Identifier: CA9135157

Gene: INSR

Linked Data

• dbSNP Id: rs373627875
• ExAC: 19:7119489 C / T
• gnomAD v2: 19-7119489-C-T
• gnomAD v4: 19-7119478-C-T
• MyVariant Identifiers: chr19:g.7119489C>T (hg19) ; chr19:g.7119478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119478C>T , CM000681.2:g.7119478C>T	GRCh38
NC_000019.9:g.7119489C>T , CM000681.1:g.7119489C>T	GRCh37
NC_000019.8:g.7070489C>T	NCBI36
NG_008852.2:g.179523G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3765G>A MANE Select	ENSP00000303830.4:p.Leu1255=
ENST00000302850.9:c.3765G>A	ENSP00000303830.4:p.Leu1255=
ENST00000341500.9:c.3729G>A	ENSP00000342838.4:p.Leu1243=
NM_000208.2:c.3765G>A	NP_000199.2:p.Leu1255=
NM_000208.3:c.3765G>A	NP_000199.2:p.Leu1255=
NM_001079817.1:c.3729G>A	NP_001073285.1:p.Leu1243=
NM_001079817.2:c.3729G>A	NP_001073285.1:p.Leu1243=
XM_011527988.1:c.3840G>A	XP_011526290.1:p.Leu1280=
XM_011527989.1:c.3804G>A	XP_011526291.1:p.Leu1268=
XM_011527988.2:c.3762G>A	XP_011526290.2:p.Leu1254=
XM_011527989.3:c.3726G>A	XP_011526291.2:p.Leu1242=
NM_000208.4:c.3765G>A MANE Select	NP_000199.2:p.Leu1255=
NM_001079817.3:c.3729G>A	NP_001073285.1:p.Leu1243=