Canonical Allele Identifier: CA403671167

Gene: INSR

Linked Data

• ClinVar Variation Id: 812074
• ClinVar RCV Id: RCV001811619
• dbSNP Id: rs1599874183
• MyVariant Identifiers: chr19:g.7125388G>A (hg19) ; chr19:g.7125377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125377G>A , CM000681.2:g.7125377G>A	GRCh38
NC_000019.9:g.7125388G>A , CM000681.1:g.7125388G>A	GRCh37
NC_000019.8:g.7076388G>A	NCBI36
NG_008852.2:g.173624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3164C>T MANE Select	ENSP00000303830.4:p.Ala1055Val
ENST00000302850.9:c.3164C>T	ENSP00000303830.4:p.Ala1055Val
ENST00000341500.9:c.3128C>T	ENSP00000342838.4:p.Ala1043Val
ENST00000593970.1:n.10C>T
NM_000208.2:c.3164C>T	NP_000199.2:p.Ala1055Val
NM_000208.3:c.3164C>T	NP_000199.2:p.Ala1055Val
NM_001079817.1:c.3128C>T	NP_001073285.1:p.Ala1043Val
NM_001079817.2:c.3128C>T	NP_001073285.1:p.Ala1043Val
XM_011527988.1:c.3239C>T	XP_011526290.1:p.Ala1080Val
XM_011527989.1:c.3203C>T	XP_011526291.1:p.Ala1068Val
XM_011527988.2:c.3161C>T	XP_011526290.2:p.Ala1054Val
XM_011527989.3:c.3125C>T	XP_011526291.2:p.Ala1042Val
NM_000208.4:c.3164C>T MANE Select	NP_000199.2:p.Ala1055Val
NM_001079817.3:c.3128C>T	NP_001073285.1:p.Ala1043Val