Canonical Allele Identifier: CA403670196

Gene: INSR

Linked Data

• ClinVar Variation Id: 2012772
• ClinVar RCV Id: RCV002843358
• dbSNP Id: rs1972521803
• MyVariant Identifiers: chr19:g.7122665T>G (hg19) ; chr19:g.7122654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7122654T>G , CM000681.2:g.7122654T>G	GRCh38
NC_000019.9:g.7122665T>G , CM000681.1:g.7122665T>G	GRCh37
NC_000019.8:g.7073665T>G	NCBI36
NG_008852.2:g.176347A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3489A>C MANE Select	ENSP00000303830.4:p.Arg1163Ser
ENST00000302850.9:c.3489A>C	ENSP00000303830.4:p.Arg1163Ser
ENST00000341500.9:c.3453A>C	ENSP00000342838.4:p.Arg1151Ser
ENST00000593970.1:n.335A>C
ENST00000601099.1:n.400A>C
NM_000208.2:c.3489A>C	NP_000199.2:p.Arg1163Ser
NM_000208.3:c.3489A>C	NP_000199.2:p.Arg1163Ser
NM_001079817.1:c.3453A>C	NP_001073285.1:p.Arg1151Ser
NM_001079817.2:c.3453A>C	NP_001073285.1:p.Arg1151Ser
XM_011527988.1:c.3564A>C	XP_011526290.1:p.Arg1188Ser
XM_011527989.1:c.3528A>C	XP_011526291.1:p.Arg1176Ser
XM_011527988.2:c.3486A>C	XP_011526290.2:p.Arg1162Ser
XM_011527989.3:c.3450A>C	XP_011526291.2:p.Arg1150Ser
NM_000208.4:c.3489A>C MANE Select	NP_000199.2:p.Arg1163Ser
NM_001079817.3:c.3453A>C	NP_001073285.1:p.Arg1151Ser