Canonical Allele Identifier: CA403668501

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7117212C>A (hg19) ; chr19:g.7117201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117201C>A , CM000681.2:g.7117201C>A	GRCh38
NC_000019.9:g.7117212C>A , CM000681.1:g.7117212C>A	GRCh37
NC_000019.8:g.7068212C>A	NCBI36
NG_008852.2:g.181800G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4004G>T MANE Select	ENSP00000303830.4:p.Cys1335Phe
ENST00000302850.9:c.4004G>T	ENSP00000303830.4:p.Cys1335Phe
ENST00000341500.9:c.3968G>T	ENSP00000342838.4:p.Cys1323Phe
NM_000208.2:c.4004G>T	NP_000199.2:p.Cys1335Phe
NM_000208.3:c.4004G>T	NP_000199.2:p.Cys1335Phe
NM_001079817.1:c.3968G>T	NP_001073285.1:p.Cys1323Phe
NM_001079817.2:c.3968G>T	NP_001073285.1:p.Cys1323Phe
XM_011527988.1:c.4079G>T	XP_011526290.1:p.Cys1360Phe
XM_011527989.1:c.4043G>T	XP_011526291.1:p.Cys1348Phe
XM_011527988.2:c.4001G>T	XP_011526290.2:p.Cys1334Phe
XM_011527989.3:c.3965G>T	XP_011526291.2:p.Cys1322Phe
NM_000208.4:c.4004G>T MANE Select	NP_000199.2:p.Cys1335Phe
NM_001079817.3:c.3968G>T	NP_001073285.1:p.Cys1323Phe