Canonical Allele Identifier: CA403669071

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7119493T>A (hg19) ; chr19:g.7119482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119482T>A , CM000681.2:g.7119482T>A	GRCh38
NC_000019.9:g.7119493T>A , CM000681.1:g.7119493T>A	GRCh37
NC_000019.8:g.7070493T>A	NCBI36
NG_008852.2:g.179519A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3761A>T MANE Select	ENSP00000303830.4:p.Tyr1254Phe
ENST00000302850.9:c.3761A>T	ENSP00000303830.4:p.Tyr1254Phe
ENST00000341500.9:c.3725A>T	ENSP00000342838.4:p.Tyr1242Phe
NM_000208.2:c.3761A>T	NP_000199.2:p.Tyr1254Phe
NM_000208.3:c.3761A>T	NP_000199.2:p.Tyr1254Phe
NM_001079817.1:c.3725A>T	NP_001073285.1:p.Tyr1242Phe
NM_001079817.2:c.3725A>T	NP_001073285.1:p.Tyr1242Phe
XM_011527988.1:c.3836A>T	XP_011526290.1:p.Tyr1279Phe
XM_011527989.1:c.3800A>T	XP_011526291.1:p.Tyr1267Phe
XM_011527988.2:c.3758A>T	XP_011526290.2:p.Tyr1253Phe
XM_011527989.3:c.3722A>T	XP_011526291.2:p.Tyr1241Phe
NM_000208.4:c.3761A>T MANE Select	NP_000199.2:p.Tyr1254Phe
NM_001079817.3:c.3725A>T	NP_001073285.1:p.Tyr1242Phe