Canonical Allele Identifier: CA403668539

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7117230A>T (hg19) ; chr19:g.7117219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117219A>T , CM000681.2:g.7117219A>T	GRCh38
NC_000019.9:g.7117230A>T , CM000681.1:g.7117230A>T	GRCh37
NC_000019.8:g.7068230A>T	NCBI36
NG_008852.2:g.181782T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3986T>A MANE Select	ENSP00000303830.4:p.Leu1329Gln
ENST00000302850.9:c.3986T>A	ENSP00000303830.4:p.Leu1329Gln
ENST00000341500.9:c.3950T>A	ENSP00000342838.4:p.Leu1317Gln
NM_000208.2:c.3986T>A	NP_000199.2:p.Leu1329Gln
NM_000208.3:c.3986T>A	NP_000199.2:p.Leu1329Gln
NM_001079817.1:c.3950T>A	NP_001073285.1:p.Leu1317Gln
NM_001079817.2:c.3950T>A	NP_001073285.1:p.Leu1317Gln
XM_011527988.1:c.4061T>A	XP_011526290.1:p.Leu1354Gln
XM_011527989.1:c.4025T>A	XP_011526291.1:p.Leu1342Gln
XM_011527988.2:c.3983T>A	XP_011526290.2:p.Leu1328Gln
XM_011527989.3:c.3947T>A	XP_011526291.2:p.Leu1316Gln
NM_000208.4:c.3986T>A MANE Select	NP_000199.2:p.Leu1329Gln
NM_001079817.3:c.3950T>A	NP_001073285.1:p.Leu1317Gln