Canonical Allele Identifier: CA403160537

Gene: INSR

Linked Data

• ClinVar Variation Id: 504474
• ClinVar RCV Id: RCV000599040
• dbSNP Id: rs1555689937
• MyVariant Identifiers: chr19:g.7267841A>G (hg19) ; chr19:g.7267830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7267830A>G , CM000681.2:g.7267830A>G	GRCh38
NC_000019.9:g.7267841A>G , CM000681.1:g.7267841A>G	GRCh37
NC_000019.8:g.7218841A>G	NCBI36
NG_008852.2:g.31171T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.167T>C MANE Select	ENSP00000303830.4:p.Ile56Thr
ENST00000302850.9:c.167T>C	ENSP00000303830.4:p.Ile56Thr
ENST00000341500.9:c.167T>C	ENSP00000342838.4:p.Ile56Thr
ENST00000598216.1:n.142T>C
NM_000208.2:c.167T>C	NP_000199.2:p.Ile56Thr
NM_000208.3:c.167T>C	NP_000199.2:p.Ile56Thr
NM_001079817.1:c.167T>C	NP_001073285.1:p.Ile56Thr
NM_001079817.2:c.167T>C	NP_001073285.1:p.Ile56Thr
XM_011527988.1:c.245T>C	XP_011526290.1:p.Ile82Thr
XM_011527989.1:c.245T>C	XP_011526291.1:p.Ile82Thr
XM_011527988.2:c.167T>C	XP_011526290.2:p.Ile56Thr
XM_011527989.3:c.167T>C	XP_011526291.2:p.Ile56Thr
NM_000208.4:c.167T>C MANE Select	NP_000199.2:p.Ile56Thr
NM_001079817.3:c.167T>C	NP_001073285.1:p.Ile56Thr