Canonical Allele Identifier: CA505400327

Gene: INSR

Linked Data

• ClinVar Variation Id: 720877
• ClinVar RCV Id: RCV000894267
• dbSNP Id: rs760555781
• COSMIC: COSM3541212 ; COSM3541213
• MyVariant Identifiers: chr19:g.7184365G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184354G>A , CM000681.2:g.7184354G>A	GRCh38
NC_000019.9:g.7184365G>A , CM000681.1:g.7184365G>A	GRCh37
NC_000019.8:g.7135365G>A	NCBI36
NG_008852.2:g.114647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.936C>T MANE Select	ENSP00000303830.4:p.Ile312=
ENST00000302850.9:c.936C>T	ENSP00000303830.4:p.Ile312=
ENST00000341500.9:c.936C>T	ENSP00000342838.4:p.Ile312=
ENST00000598216.1:n.911C>T
NM_000208.2:c.936C>T	NP_000199.2:p.Ile312=
NM_000208.3:c.936C>T	NP_000199.2:p.Ile312=
NM_001079817.1:c.936C>T	NP_001073285.1:p.Ile312=
NM_001079817.2:c.936C>T	NP_001073285.1:p.Ile312=
XM_011527988.1:c.1014C>T	XP_011526290.1:p.Ile338=
XM_011527989.1:c.1014C>T	XP_011526291.1:p.Ile338=
XM_011527988.2:c.936C>T	XP_011526290.2:p.Ile312=
XM_011527989.3:c.936C>T	XP_011526291.2:p.Ile312=
NM_000208.4:c.936C>T MANE Select	NP_000199.2:p.Ile312=
NM_001079817.3:c.936C>T	NP_001073285.1:p.Ile312=