Canonical Allele Identifier: CA9135759

Gene: INSR

Linked Data

• dbSNP Id: rs747464322
• ExAC: 19:7166284 C / T
• gnomAD v2: 19-7166284-C-T
• gnomAD v4: 19-7166273-C-T
• MyVariant Identifiers: chr19:g.7166284C>T (hg19) ; chr19:g.7166273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166273C>T , CM000681.2:g.7166273C>T	GRCh38
NC_000019.9:g.7166284C>T , CM000681.1:g.7166284C>T	GRCh37
NC_000019.8:g.7117284C>T	NCBI36
NG_008852.2:g.132728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1742G>A MANE Select	ENSP00000303830.4:p.Arg581Gln
ENST00000302850.9:c.1742G>A	ENSP00000303830.4:p.Arg581Gln
ENST00000341500.9:c.1742G>A	ENSP00000342838.4:p.Arg581Gln
ENST00000598216.1:n.1717G>A
ENST00000600492.1:c.143G>A	ENSP00000473170.1:p.Arg48Gln
NM_000208.2:c.1742G>A	NP_000199.2:p.Arg581Gln
NM_000208.3:c.1742G>A	NP_000199.2:p.Arg581Gln
NM_001079817.1:c.1742G>A	NP_001073285.1:p.Arg581Gln
NM_001079817.2:c.1742G>A	NP_001073285.1:p.Arg581Gln
XM_011527988.1:c.1820G>A	XP_011526290.1:p.Arg607Gln
XM_011527989.1:c.1820G>A	XP_011526291.1:p.Arg607Gln
XM_011527988.2:c.1742G>A	XP_011526290.2:p.Arg581Gln
XM_011527989.3:c.1742G>A	XP_011526291.2:p.Arg581Gln
NM_000208.4:c.1742G>A MANE Select	NP_000199.2:p.Arg581Gln
NM_001079817.3:c.1742G>A	NP_001073285.1:p.Arg581Gln