Canonical Allele Identifier: CA9135173

Gene: INSR

Linked Data

• dbSNP Id: rs747127077
• ExAC: 19:7119592 G / A
• MyVariant Identifiers: chr19:g.7119592G>A (hg19) ; chr19:g.7119581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119581G>A , CM000681.2:g.7119581G>A	GRCh38
NC_000019.9:g.7119592G>A , CM000681.1:g.7119592G>A	GRCh37
NC_000019.8:g.7070592G>A	NCBI36
NG_008852.2:g.179420C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3662C>T MANE Select	ENSP00000303830.4:p.Ser1221Phe
ENST00000302850.9:c.3662C>T	ENSP00000303830.4:p.Ser1221Phe
ENST00000341500.9:c.3626C>T	ENSP00000342838.4:p.Ser1209Phe
NM_000208.2:c.3662C>T	NP_000199.2:p.Ser1221Phe
NM_000208.3:c.3662C>T	NP_000199.2:p.Ser1221Phe
NM_001079817.1:c.3626C>T	NP_001073285.1:p.Ser1209Phe
NM_001079817.2:c.3626C>T	NP_001073285.1:p.Ser1209Phe
XM_011527988.1:c.3737C>T	XP_011526290.1:p.Ser1246Phe
XM_011527989.1:c.3701C>T	XP_011526291.1:p.Ser1234Phe
XM_011527988.2:c.3659C>T	XP_011526290.2:p.Ser1220Phe
XM_011527989.3:c.3623C>T	XP_011526291.2:p.Ser1208Phe
NM_000208.4:c.3662C>T MANE Select	NP_000199.2:p.Ser1221Phe
NM_001079817.3:c.3626C>T	NP_001073285.1:p.Ser1209Phe