Canonical Allele Identifier: CA2142917
Gene: IRS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225392
ClinVar RCV Id: RCV000490330
dbSNP Id: rs148962208

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.226795504G>A , CM000664.2:g.226795504G>A GRCh38
NC_000002.11:g.227660220G>A , CM000664.1:g.227660220G>A GRCh37
NC_000002.10:g.227368464G>A NCBI36
NG_015830.1:g.8287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305123.6:c.3235C>T MANE Select ENSP00000304895.4:p.Pro1079Ser
ENST00000305123.5:c.3235C>T ENSP00000304895.4:p.Pro1079Ser
NM_005544.2:c.3235C>T NP_005535.1:p.Pro1079Ser
NM_005544.3:c.3235C>T MANE Select NP_005535.1:p.Pro1079Ser