Canonical Allele Identifier: CA5121379
Community Standard Title: NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly)
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92047668G>C , CM000671.2:g.92047668G>C GRCh38
NC_000009.11:g.94809950G>C , CM000671.1:g.94809950G>C GRCh37
NC_000009.10:g.93849771G>C NCBI36
NG_007950.1:g.72741C>G , LRG_272:g.72741C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.929C>G MANE Select NP_006406.1:p.Ala310Gly
ENST00000262554.7:c.929C>G MANE Select ENSP00000262554.2:p.Ala310Gly
NM_001281303.1:c.929C>G NP_001268232.1:p.Ala310Gly
NM_001281303.2:c.929C>G NP_001268232.1:p.Ala310Gly
NM_001368272.1:c.563C>G NP_001355201.1:p.Ala188Gly
NM_001368273.1:c.464C>G NP_001355202.1:p.Ala155Gly
NM_006415.3:c.929C>G NP_006406.1:p.Ala310Gly
ENST00000262554.6:c.929C>G ENSP00000262554.2:p.Ala310Gly
ENST00000482632.6:n.1339C>G
ENST00000642671.1:c.1170C>G ENSP00000495764.1:n.1170C>G
ENST00000643599.1:c.997C>G ENSP00000494770.1:n.997C>G
ENST00000644140.1:c.*670C>G ENSP00000493933.1:n.*670C>G
ENST00000646481.1:c.801C>G ENSP00000496627.1:n.801C>G
ENST00000646534.1:c.*732C>G ENSP00000495388.1:n.*732C>G
ENST00000686600.1:c.929C>G ENSP00000509268.1:p.Ala310Gly
ENST00000686799.1:n.1026C>G
ENST00000687427.1:c.929C>G ENSP00000509426.1:p.Ala310Gly
ENST00000687817.1:c.*732C>G ENSP00000508926.1:n.*732C>G
ENST00000687972.1:c.989C>G ENSP00000509208.1:p.Ala330Gly
ENST00000689261.1:n.836C>G
ENST00000689401.1:c.*1179C>G ENSP00000510251.1:n.*1179C>G
ENST00000689423.1:c.*1179C>G ENSP00000508519.1:n.*1179C>G
ENST00000690095.1:n.1257C>G
ENST00000690139.1:c.*630C>G ENSP00000510483.1:n.*630C>G
ENST00000692458.1:n.952C>G
ENST00000693147.1:c.*945C>G ENSP00000510358.1:n.*945C>G
XM_011518138.1:c.929C>G XP_011516440.1:p.Ala310Gly
XM_011518138.2:c.929C>G XP_011516440.1:p.Ala310Gly
XM_011518139.1:c.464C>G XP_011516441.1:p.Ala155Gly
XM_011518139.3:c.464C>G XP_011516441.1:p.Ala155Gly
XM_017014200.2:c.563C>G XP_016869689.1:p.Ala188Gly
XM_017014201.2:c.563C>G XP_016869690.1:p.Ala188Gly
XM_024447378.1:c.464C>G XP_024303146.1:p.Ala155Gly
XM_024447379.1:c.464C>G XP_024303147.1:p.Ala155Gly
XR_002956744.1:n.1079C>G