Canonical Allele Identifier: CA1624907
Community Standard Title: NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39120416C>A , CM000664.2:g.39120416C>A GRCh38
NC_000002.11:g.39347557C>A , CM000664.1:g.39347557C>A GRCh37
NC_000002.10:g.39201061C>A NCBI36
NG_007530.1:g.5048G>T , LRG_754:g.5048G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.7G>T MANE Select NP_005624.2:p.Ala3Ser
ENST00000402219.8:c.7G>T MANE Select ENSP00000384675.2:p.Ala3Ser
NM_001382394.1:c.66+4248G>T NP_001369323.1:n.66+4248G>T
NM_001382395.1:c.7G>T NP_001369324.1:p.Ala3Ser
NM_005633.3:c.7G>T , LRG_754t1:c.7G>T NP_005624.2:p.Ala3Ser
ENST00000395038.6:c.7G>T ENSP00000378479.2:p.Ala3Ser
ENST00000402219.6:c.7G>T ENSP00000384675.2:p.Ala3Ser
ENST00000426016.5:c.7G>T ENSP00000387784.1:p.Ala3Ser
ENST00000451331.1:c.-85+3743G>T ENSP00000393899.1:n.-85+3743G>T
ENST00000461545.2:n.34G>T
ENST00000689668.1:n.14G>T
ENST00000690679.1:c.187+3743G>T
ENST00000690876.1:c.7G>T ENSP00000508955.1:p.Ala3Ser
ENST00000691229.1:c.7G>T ENSP00000510437.1:p.Ala3Ser
ENST00000692089.1:c.7G>T ENSP00000508626.1:p.Ala3Ser
XM_005264515.3:c.7G>T XP_005264572.1:p.Ala3Ser
XM_005264515.4:c.7G>T XP_005264572.1:p.Ala3Ser
XM_011533062.1:c.66+4248G>T XP_011531364.1:n.66+4248G>T
XM_011533062.2:c.66+4248G>T XP_011531364.1:n.66+4248G>T