Canonical Allele Identifier: CA2819561
Community Standard Title: NM_001122681.2(SH3BP2):c.1481C>T (p.Ser494Leu)
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2832405C>T , CM000666.2:g.2832405C>T GRCh38
NC_000004.11:g.2834132C>T , CM000666.1:g.2834132C>T GRCh37
NC_000004.10:g.2803930C>T NCBI36
NG_011609.1:g.44383C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.1481C>T MANE Select NP_001116153.1:p.Ser494Leu
ENST00000503393.8:c.1481C>T MANE Select ENSP00000422168.3:p.Ser494Leu
NM_001122681.1:c.1481C>T NP_001116153.1:p.Ser494Leu
NM_001145855.1:c.1565C>T NP_001139327.1:p.Ser522Leu
NM_001145855.2:c.1565C>T NP_001139327.1:p.Ser522Leu
NM_001145856.1:c.1652C>T NP_001139328.1:p.Ser551Leu
NM_001145856.2:c.1652C>T NP_001139328.1:p.Ser551Leu
NM_003023.4:c.1481C>T NP_003014.3:p.Ser494Leu
ENST00000356331.9:c.1481C>T ENSP00000348685.5:p.Ser494Leu
ENST00000435136.6:c.1481C>T ENSP00000403231.2:p.Ser494Leu
ENST00000435136.8:c.1565C>T ENSP00000403231.3:p.Ser522Leu
ENST00000442312.6:c.1565C>T ENSP00000388152.2:p.Ser522Leu
ENST00000452765.6:c.1481C>T ENSP00000409746.2:p.Ser494Leu
ENST00000452765.7:c.61C>T
ENST00000503393.6:c.1652C>T ENSP00000422168.2:p.Ser551Leu
ENST00000504450.1:n.778C>T
ENST00000510204.5:n.2310C>T
ENST00000511747.5:c.1481C>T ENSP00000424846.1:p.Ser494Leu
ENST00000511747.6:c.1652C>T ENSP00000424846.2:p.Ser551Leu
ENST00000513069.1:c.535C>T
ENST00000515737.5:c.*1366C>T ENSP00000422605.1:n.*1366C>T
ENST00000515802.5:n.1587C>T
XM_005247998.3:c.1490C>T XP_005248055.1:p.Ser497Leu
XM_005247999.3:c.1481C>T XP_005248056.1:p.Ser494Leu
XM_011513547.1:c.1652C>T XP_011511849.1:p.Ser551Leu
XM_011513548.1:c.1425C>T XP_011511850.1:p.Val475=
XM_011513549.1:c.1481C>T XP_011511851.1:p.Ser494Leu
XM_011513550.1:c.1481C>T XP_011511852.1:p.Ser494Leu
XM_011513551.1:c.1425C>T XP_011511853.1:p.Val475=
XM_011513552.1:c.1310C>T XP_011511854.1:p.Ser437Leu
XM_011513553.1:c.1118C>T XP_011511855.1:p.Ser373Leu
XM_011513554.1:c.770C>T XP_011511856.1:p.Ser257Leu
XM_011513555.1:c.826C>T XP_011511857.1:p.Arg276Trp
XM_011513556.1:c.826C>T XP_011511858.1:p.Arg276Trp
XR_924990.1:n.1485C>T