Canonical Allele Identifier: CA5121583
Community Standard Title: NM_006415.4(SPTLC1):c.388G>C (p.Val130Leu)
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92080055C>G , CM000671.2:g.92080055C>G GRCh38
NC_000009.11:g.94842337C>G , CM000671.1:g.94842337C>G GRCh37
NC_000009.10:g.93882158C>G NCBI36
NG_007950.1:g.40354G>C , LRG_272:g.40354G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.388G>C MANE Select NP_006406.1:p.Val130Leu
ENST00000262554.7:c.388G>C MANE Select ENSP00000262554.2:p.Val130Leu
NM_001281303.1:c.388G>C NP_001268232.1:p.Val130Leu
NM_001281303.2:c.388G>C NP_001268232.1:p.Val130Leu
NM_001368272.1:c.-112G>C NP_001355201.1:n.-112G>C
NM_001368273.1:c.-78G>C NP_001355202.1:n.-78G>C
NM_006415.3:c.388G>C NP_006406.1:p.Val130Leu
NM_178324.2:c.388G>C NP_847894.1:p.Val130Leu
NM_178324.3:c.388G>C NP_847894.1:p.Val130Leu
ENST00000262554.6:c.388G>C ENSP00000262554.2:p.Val130Leu
ENST00000337841.4:c.388G>C ENSP00000337635.4:p.Val130Leu
ENST00000477888.1:n.157G>C
ENST00000482632.5:n.402G>C
ENST00000482632.6:n.798G>C
ENST00000642671.1:c.22G>C ENSP00000495764.1:p.Val8Leu
ENST00000643599.1:c.22G>C ENSP00000494770.1:p.Val8Leu
ENST00000644140.1:c.388G>C ENSP00000493933.1:p.Val130Leu
ENST00000646481.1:c.22G>C ENSP00000496627.1:p.Val8Leu
ENST00000646534.1:c.388G>C ENSP00000495388.1:p.Val130Leu
ENST00000686600.1:c.388G>C ENSP00000509268.1:p.Val130Leu
ENST00000686799.1:n.485G>C
ENST00000687427.1:c.388G>C ENSP00000509426.1:p.Val130Leu
ENST00000687817.1:c.388G>C ENSP00000508926.1:p.Val130Leu
ENST00000687972.1:c.388G>C ENSP00000509208.1:p.Val130Leu
ENST00000689261.1:n.295G>C
ENST00000689401.1:c.*400G>C ENSP00000510251.1:n.*400G>C
ENST00000689423.1:c.*400G>C ENSP00000508519.1:n.*400G>C
ENST00000690095.1:n.583G>C
ENST00000690139.1:c.388G>C ENSP00000510483.1:p.Val130Leu
ENST00000692458.1:n.411G>C
ENST00000693147.1:c.*404G>C ENSP00000510358.1:n.*404G>C
XM_011518138.1:c.388G>C XP_011516440.1:p.Val130Leu
XM_011518138.2:c.388G>C XP_011516440.1:p.Val130Leu
XM_011518139.1:c.-78G>C XP_011516441.1:n.-78G>C
XM_011518139.3:c.-78G>C XP_011516441.1:n.-78G>C
XM_017014200.2:c.-112G>C XP_016869689.1:n.-112G>C
XM_017014201.2:c.-112G>C XP_016869690.1:n.-112G>C
XR_002956744.1:n.405G>C