Canonical Allele Identifier: CA9135115

Gene: INSR

Linked Data

• dbSNP Id: rs774314373
• ExAC: 19:7117275 C / G
• gnomAD v2: 19-7117275-C-G
• gnomAD v3: 19-7117264-C-G
• gnomAD v4: 19-7117264-C-G
• MyVariant Identifiers: chr19:g.7117275C>G (hg19) ; chr19:g.7117264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117264C>G , CM000681.2:g.7117264C>G	GRCh38
NC_000019.9:g.7117275C>G , CM000681.1:g.7117275C>G	GRCh37
NC_000019.8:g.7068275C>G	NCBI36
NG_008852.2:g.181737G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3941G>C MANE Select	ENSP00000303830.4:p.Ser1314Thr
ENST00000302850.9:c.3941G>C	ENSP00000303830.4:p.Ser1314Thr
ENST00000341500.9:c.3905G>C	ENSP00000342838.4:p.Ser1302Thr
NM_000208.2:c.3941G>C	NP_000199.2:p.Ser1314Thr
NM_000208.3:c.3941G>C	NP_000199.2:p.Ser1314Thr
NM_001079817.1:c.3905G>C	NP_001073285.1:p.Ser1302Thr
NM_001079817.2:c.3905G>C	NP_001073285.1:p.Ser1302Thr
XM_011527988.1:c.4016G>C	XP_011526290.1:p.Ser1339Thr
XM_011527989.1:c.3980G>C	XP_011526291.1:p.Ser1327Thr
XM_011527988.2:c.3938G>C	XP_011526290.2:p.Ser1313Thr
XM_011527989.3:c.3902G>C	XP_011526291.2:p.Ser1301Thr
NM_000208.4:c.3941G>C MANE Select	NP_000199.2:p.Ser1314Thr
NM_001079817.3:c.3905G>C	NP_001073285.1:p.Ser1302Thr