Canonical Allele Identifier: CA403667567

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7172305T>G (hg19) ; chr19:g.7172294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172294T>G , CM000681.2:g.7172294T>G	GRCh38
NC_000019.9:g.7172305T>G , CM000681.1:g.7172305T>G	GRCh37
NC_000019.8:g.7123305T>G	NCBI36
NG_008852.2:g.126707A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1264A>C MANE Select	ENSP00000303830.4:p.Ile422Leu
ENST00000302850.9:c.1264A>C	ENSP00000303830.4:p.Ile422Leu
ENST00000341500.9:c.1264A>C	ENSP00000342838.4:p.Ile422Leu
ENST00000598216.1:n.1239A>C
NM_000208.2:c.1264A>C	NP_000199.2:p.Ile422Leu
NM_000208.3:c.1264A>C	NP_000199.2:p.Ile422Leu
NM_001079817.1:c.1264A>C	NP_001073285.1:p.Ile422Leu
NM_001079817.2:c.1264A>C	NP_001073285.1:p.Ile422Leu
XM_011527988.1:c.1342A>C	XP_011526290.1:p.Ile448Leu
XM_011527989.1:c.1342A>C	XP_011526291.1:p.Ile448Leu
XM_011527988.2:c.1264A>C	XP_011526290.2:p.Ile422Leu
XM_011527989.3:c.1264A>C	XP_011526291.2:p.Ile422Leu
NM_000208.4:c.1264A>C MANE Select	NP_000199.2:p.Ile422Leu
NM_001079817.3:c.1264A>C	NP_001073285.1:p.Ile422Leu