Canonical Allele Identifier: CA403671942

Gene: INSR

Linked Data

• dbSNP Id: rs1276948190
• gnomAD v2: 19-7132189-T-C
• gnomAD v3: 19-7132178-T-C
• gnomAD v4: 19-7132178-T-C
• MyVariant Identifiers: chr19:g.7132189T>C (hg19) ; chr19:g.7132178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132178T>C , CM000681.2:g.7132178T>C	GRCh38
NC_000019.9:g.7132189T>C , CM000681.1:g.7132189T>C	GRCh37
NC_000019.8:g.7083189T>C	NCBI36
NG_008852.2:g.166823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2822A>G MANE Select	ENSP00000303830.4:p.Tyr941Cys
ENST00000302850.9:c.2822A>G	ENSP00000303830.4:p.Tyr941Cys
ENST00000341500.9:c.2786A>G	ENSP00000342838.4:p.Tyr929Cys
NM_000208.2:c.2822A>G	NP_000199.2:p.Tyr941Cys
NM_000208.3:c.2822A>G	NP_000199.2:p.Tyr941Cys
NM_001079817.1:c.2786A>G	NP_001073285.1:p.Tyr929Cys
NM_001079817.2:c.2786A>G	NP_001073285.1:p.Tyr929Cys
XM_011527988.1:c.2900A>G	XP_011526290.1:p.Tyr967Cys
XM_011527989.1:c.2864A>G	XP_011526291.1:p.Tyr955Cys
XM_011527988.2:c.2822A>G	XP_011526290.2:p.Tyr941Cys
XM_011527989.3:c.2786A>G	XP_011526291.2:p.Tyr929Cys
NM_000208.4:c.2822A>G MANE Select	NP_000199.2:p.Tyr941Cys
NM_001079817.3:c.2786A>G	NP_001073285.1:p.Tyr929Cys