Canonical Allele Identifier: CA403669935

Gene: INSR

Linked Data

• dbSNP Id: rs1974364446
• MyVariant Identifiers: chr19:g.7184462C>G (hg19) ; chr19:g.7184451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184451C>G , CM000681.2:g.7184451C>G	GRCh38
NC_000019.9:g.7184462C>G , CM000681.1:g.7184462C>G	GRCh37
NC_000019.8:g.7135462C>G	NCBI36
NG_008852.2:g.114550G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.839G>C MANE Select	ENSP00000303830.4:p.Cys280Ser
ENST00000302850.9:c.839G>C	ENSP00000303830.4:p.Cys280Ser
ENST00000341500.9:c.839G>C	ENSP00000342838.4:p.Cys280Ser
ENST00000598216.1:n.814G>C
NM_000208.2:c.839G>C	NP_000199.2:p.Cys280Ser
NM_000208.3:c.839G>C	NP_000199.2:p.Cys280Ser
NM_001079817.1:c.839G>C	NP_001073285.1:p.Cys280Ser
NM_001079817.2:c.839G>C	NP_001073285.1:p.Cys280Ser
XM_011527988.1:c.917G>C	XP_011526290.1:p.Cys306Ser
XM_011527989.1:c.917G>C	XP_011526291.1:p.Cys306Ser
XM_011527988.2:c.839G>C	XP_011526290.2:p.Cys280Ser
XM_011527989.3:c.839G>C	XP_011526291.2:p.Cys280Ser
NM_000208.4:c.839G>C MANE Select	NP_000199.2:p.Cys280Ser
NM_001079817.3:c.839G>C	NP_001073285.1:p.Cys280Ser