Canonical Allele Identifier: CA403667754

Gene: INSR

Linked Data

• dbSNP Id: rs1326844047
• gnomAD v2: 19-7172398-T-C
• gnomAD v4: 19-7172387-T-C
• MyVariant Identifiers: chr19:g.7172398T>C (hg19) ; chr19:g.7172387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172387T>C , CM000681.2:g.7172387T>C	GRCh38
NC_000019.9:g.7172398T>C , CM000681.1:g.7172398T>C	GRCh37
NC_000019.8:g.7123398T>C	NCBI36
NG_008852.2:g.126614A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1171A>G MANE Select	ENSP00000303830.4:p.Ile391Val
ENST00000302850.9:c.1171A>G	ENSP00000303830.4:p.Ile391Val
ENST00000341500.9:c.1171A>G	ENSP00000342838.4:p.Ile391Val
ENST00000598216.1:n.1146A>G
NM_000208.2:c.1171A>G	NP_000199.2:p.Ile391Val
NM_000208.3:c.1171A>G	NP_000199.2:p.Ile391Val
NM_001079817.1:c.1171A>G	NP_001073285.1:p.Ile391Val
NM_001079817.2:c.1171A>G	NP_001073285.1:p.Ile391Val
XM_011527988.1:c.1249A>G	XP_011526290.1:p.Ile417Val
XM_011527989.1:c.1249A>G	XP_011526291.1:p.Ile417Val
XM_011527988.2:c.1171A>G	XP_011526290.2:p.Ile391Val
XM_011527989.3:c.1171A>G	XP_011526291.2:p.Ile391Val
NM_000208.4:c.1171A>G MANE Select	NP_000199.2:p.Ile391Val
NM_001079817.3:c.1171A>G	NP_001073285.1:p.Ile391Val