Canonical Allele Identifier: CA394740825
Community Standard Title: NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11255415G>A , CM000678.2:g.11255415G>A GRCh38
NC_000016.9:g.11349272G>A , CM000678.1:g.11349272G>A GRCh37
NC_000016.8:g.11256773G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003745.2:c.64C>T (SOCS1) MANE Select NP_003736.1:p.Arg22Trp
ENST00000332029.4:c.64C>T (SOCS1) MANE Select ENSP00000329418.2:p.Arg22Trp
NM_003745.1:c.64C>T (SOCS1) NP_003736.1:p.Arg22Trp
ENST00000332029.2:c.64C>T (SOCS1) ENSP00000329418.2:p.Arg22Trp
ENST00000332029.3:c.64C>T (SOCS1) ENSP00000329418.2:p.Arg22Trp
ENST00000572173.1:c.-516+5637G>A (RMI2) ENSP00000461206.1:n.-516+5637G>A
ENST00000573910.1:n.160+5637G>A (RMI2)
ENST00000644787.1:c.64C>T (SOCS1) ENSP00000496577.1:p.Arg22Trp
ENST00000649869.1:n.152+5637G>A (RMI2)
XR_933070.1:n.733+5637G>A
XR_933070.3:n.876+5637G>A