Canonical Allele Identifier: CA403667101

Gene: INSR

Linked Data

• ClinVar Variation Id: 917412
• ClinVar RCV Id: RCV001174371
• dbSNP Id: rs121913136
• MyVariant Identifiers: chr19:g.7170572T>G (hg19) ; chr19:g.7170561T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170561T>G , CM000681.2:g.7170561T>G	GRCh38
NC_000019.9:g.7170572T>G , CM000681.1:g.7170572T>G	GRCh37
NC_000019.8:g.7121572T>G	NCBI36
NG_008852.2:g.128440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1459A>C MANE Select	ENSP00000303830.4:p.Lys487Gln
ENST00000302850.9:c.1459A>C	ENSP00000303830.4:p.Lys487Gln
ENST00000341500.9:c.1459A>C	ENSP00000342838.4:p.Lys487Gln
ENST00000598216.1:n.1434A>C
NM_000208.2:c.1459A>C	NP_000199.2:p.Lys487Gln
NM_000208.3:c.1459A>C	NP_000199.2:p.Lys487Gln
NM_001079817.1:c.1459A>C	NP_001073285.1:p.Lys487Gln
NM_001079817.2:c.1459A>C	NP_001073285.1:p.Lys487Gln
XM_011527988.1:c.1537A>C	XP_011526290.1:p.Lys513Gln
XM_011527989.1:c.1537A>C	XP_011526291.1:p.Lys513Gln
XM_011527988.2:c.1459A>C	XP_011526290.2:p.Lys487Gln
XM_011527989.3:c.1459A>C	XP_011526291.2:p.Lys487Gln
NM_000208.4:c.1459A>C MANE Select	NP_000199.2:p.Lys487Gln
NM_001079817.3:c.1459A>C	NP_001073285.1:p.Lys487Gln