Canonical Allele Identifier: CA9135105

Gene: INSR

Linked Data

• dbSNP Id: rs758067031
• ExAC: 19:7117211 A / C
• MyVariant Identifiers: chr19:g.7117211A>C (hg19) ; chr19:g.7117200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117200A>C , CM000681.2:g.7117200A>C	GRCh38
NC_000019.9:g.7117211A>C , CM000681.1:g.7117211A>C	GRCh37
NC_000019.8:g.7068211A>C	NCBI36
NG_008852.2:g.181801T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4005T>G MANE Select	ENSP00000303830.4:p.Cys1335Trp
ENST00000302850.9:c.4005T>G	ENSP00000303830.4:p.Cys1335Trp
ENST00000341500.9:c.3969T>G	ENSP00000342838.4:p.Cys1323Trp
NM_000208.2:c.4005T>G	NP_000199.2:p.Cys1335Trp
NM_000208.3:c.4005T>G	NP_000199.2:p.Cys1335Trp
NM_001079817.1:c.3969T>G	NP_001073285.1:p.Cys1323Trp
NM_001079817.2:c.3969T>G	NP_001073285.1:p.Cys1323Trp
XM_011527988.1:c.4080T>G	XP_011526290.1:p.Cys1360Trp
XM_011527989.1:c.4044T>G	XP_011526291.1:p.Cys1348Trp
XM_011527988.2:c.4002T>G	XP_011526290.2:p.Cys1334Trp
XM_011527989.3:c.3966T>G	XP_011526291.2:p.Cys1322Trp
NM_000208.4:c.4005T>G MANE Select	NP_000199.2:p.Cys1335Trp
NM_001079817.3:c.3969T>G	NP_001073285.1:p.Cys1323Trp