Canonical Allele Identifier: CA359480598
Community Standard Title: NM_004172.5(SLC1A3):c.886C>G (p.Leu296Val)
Gene: SLC1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36679652C>G , CM000667.2:g.36679652C>G GRCh38
NC_000005.9:g.36679754C>G , CM000667.1:g.36679754C>G GRCh37
NC_000005.8:g.36715511C>G NCBI36
NG_015890.1:g.78298C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004172.5:c.886C>G MANE Select NP_004163.3:p.Leu296Val
ENST00000265113.9:c.886C>G MANE Select ENSP00000265113.4:p.Leu296Val
NM_001166695.2:c.886C>G NP_001160167.1:p.Leu296Val
NM_001166695.3:c.886C>G NP_001160167.1:p.Leu296Val
NM_001289939.1:c.748C>G NP_001276868.1:p.Leu250Val
NM_001289939.2:c.748C>G NP_001276868.1:p.Leu250Val
NM_001289940.1:c.550C>G NP_001276869.1:p.Leu184Val
NM_001289940.2:c.550C>G NP_001276869.1:p.Leu184Val
NM_004172.4:c.886C>G NP_004163.3:p.Leu296Val
ENST00000265113.8:c.886C>G ENSP00000265113.4:p.Leu296Val
ENST00000381918.3:c.886C>G ENSP00000371343.3:p.Leu296Val
ENST00000381918.4:c.886C>G ENSP00000371343.4:p.Leu296Val
ENST00000612708.4:c.550C>G ENSP00000483657.1:p.Leu184Val
ENST00000612708.5:c.550C>G ENSP00000483657.1:p.Leu184Val
ENST00000613445.4:c.748C>G ENSP00000477672.1:p.Leu250Val
ENST00000613445.5:c.748C>G ENSP00000477672.1:p.Leu250Val
ENST00000624112.2:n.3879C>G
ENST00000679384.1:n.26C>G
ENST00000679487.1:c.44-103C>G
ENST00000679784.1:c.*798C>G ENSP00000506030.1:n.*798C>G
ENST00000679852.1:c.26C>G
ENST00000679958.1:c.320-6413C>G ENSP00000505246.1:n.320-6413C>G
ENST00000679983.1:c.886C>G ENSP00000505238.1:p.Leu296Val
ENST00000679992.1:c.886C>G ENSP00000506585.1:p.Leu296Val
ENST00000680048.1:c.*1379C>G ENSP00000505296.1:n.*1379C>G
ENST00000680064.1:n.3694C>G
ENST00000680125.1:c.886C>G ENSP00000506424.1:p.Leu296Val
ENST00000680232.1:c.1027C>G ENSP00000506207.1:p.Leu343Val
ENST00000680318.1:c.886C>G ENSP00000505057.1:p.Leu296Val
ENST00000680369.1:c.26C>G
ENST00000680655.1:c.*598C>G ENSP00000506436.1:n.*598C>G
ENST00000680835.1:c.69C>G
ENST00000680876.1:n.4067C>G
ENST00000680878.1:n.4067C>G
ENST00000680890.1:c.294-743C>G ENSP00000505580.1:n.294-743C>G
ENST00000681440.1:c.44-4212C>G
ENST00000681480.1:c.294-103C>G ENSP00000506380.1:n.294-103C>G
ENST00000681633.1:n.3694C>G
ENST00000681701.1:c.524C>G
ENST00000681814.1:n.1001C>G
ENST00000681854.1:c.340+26C>G ENSP00000504899.1:n.340+26C>G
ENST00000681909.1:c.748C>G ENSP00000506599.1:p.Leu250Val
ENST00000681926.1:c.886C>G ENSP00000505850.1:p.Leu296Val
XM_005248342.1:c.886C>G XP_005248399.1:p.Leu296Val
XM_005248342.3:c.886C>G XP_005248399.1:p.Leu296Val
XM_011514084.1:c.565C>G XP_011512386.1:p.Leu189Val
XM_011514084.2:c.565C>G XP_011512386.1:p.Leu189Val
XM_024446181.1:c.886C>G XP_024301949.1:p.Leu296Val
XM_024446182.1:c.886C>G XP_024301950.1:p.Leu296Val