Canonical Allele Identifier: CA9135118

Gene: INSR

Linked Data

• dbSNP Id: rs201506342
• ExAC: 19:7117282 G / T
• gnomAD v2: 19-7117282-G-T
• gnomAD v3: 19-7117271-G-T
• gnomAD v4: 19-7117271-G-T
• MyVariant Identifiers: chr19:g.7117282G>T (hg19) ; chr19:g.7117271G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117271G>T , CM000681.2:g.7117271G>T	GRCh38
NC_000019.9:g.7117282G>T , CM000681.1:g.7117282G>T	GRCh37
NC_000019.8:g.7068282G>T	NCBI36
NG_008852.2:g.181730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3934C>A MANE Select	ENSP00000303830.4:p.Pro1312Thr
ENST00000302850.9:c.3934C>A	ENSP00000303830.4:p.Pro1312Thr
ENST00000341500.9:c.3898C>A	ENSP00000342838.4:p.Pro1300Thr
NM_000208.2:c.3934C>A	NP_000199.2:p.Pro1312Thr
NM_000208.3:c.3934C>A	NP_000199.2:p.Pro1312Thr
NM_001079817.1:c.3898C>A	NP_001073285.1:p.Pro1300Thr
NM_001079817.2:c.3898C>A	NP_001073285.1:p.Pro1300Thr
XM_011527988.1:c.4009C>A	XP_011526290.1:p.Pro1337Thr
XM_011527989.1:c.3973C>A	XP_011526291.1:p.Pro1325Thr
XM_011527988.2:c.3931C>A	XP_011526290.2:p.Pro1311Thr
XM_011527989.3:c.3895C>A	XP_011526291.2:p.Pro1299Thr
NM_000208.4:c.3934C>A MANE Select	NP_000199.2:p.Pro1312Thr
NM_001079817.3:c.3898C>A	NP_001073285.1:p.Pro1300Thr