Canonical Allele Identifier: CA1864065401
Community Standard Title: NM_006415.4(SPTLC1):c.992C= (p.Ser331=)
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92047261G= , CM000671.2:g.92047261G= GRCh38
NC_000009.11:g.94809543G= , CM000671.1:g.94809543G= GRCh37
NC_000009.10:g.93849364G= NCBI36
NG_007950.1:g.73148C= , LRG_272:g.73148C=

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.992C= MANE Select NP_006406.1:p.Ser331=
ENST00000262554.7:c.992C= MANE Select ENSP00000262554.2:p.Ser331=
NM_001281303.1:c.992C= NP_001268232.1:p.Ser331=
NM_001281303.2:c.992C= NP_001268232.1:p.Ser331=
NM_001368272.1:c.626C= NP_001355201.1:p.Ser209=
NM_001368273.1:c.527C= NP_001355202.1:p.Ser176=
NM_006415.3:c.992C= NP_006406.1:p.Ser331=
ENST00000262554.6:c.992C= ENSP00000262554.2:p.Ser331=
ENST00000482632.6:n.1402C=
ENST00000642671.1:c.1233C= ENSP00000495764.1:n.1233C=
ENST00000643599.1:c.1060C= ENSP00000494770.1:n.1060C=
ENST00000644140.1:c.*733C= ENSP00000493933.1:n.*733C=
ENST00000646481.1:c.864C= ENSP00000496627.1:n.864C=
ENST00000646534.1:c.*795C= ENSP00000495388.1:n.*795C=
ENST00000686600.1:c.992C= ENSP00000509268.1:p.Ser331=
ENST00000686799.1:n.1089C=
ENST00000687427.1:c.992C= ENSP00000509426.1:p.Ser331=
ENST00000687817.1:c.*1139C= ENSP00000508926.1:n.*1139C=
ENST00000687972.1:c.1052C= ENSP00000509208.1:p.Ser351=
ENST00000689261.1:n.899C=
ENST00000689401.1:c.*1242C= ENSP00000510251.1:n.*1242C=
ENST00000689423.1:c.*1242C= ENSP00000508519.1:n.*1242C=
ENST00000690095.1:n.1320C=
ENST00000690139.1:c.*693C= ENSP00000510483.1:n.*693C=
ENST00000692458.1:n.1359C=
ENST00000693147.1:c.*1008C= ENSP00000510358.1:n.*1008C=
XM_011518138.1:c.992C= XP_011516440.1:p.Ser331=
XM_011518138.2:c.992C= XP_011516440.1:p.Ser331=
XM_011518139.1:c.527C= XP_011516441.1:p.Ser176=
XM_011518139.3:c.527C= XP_011516441.1:p.Ser176=
XM_017014200.2:c.626C= XP_016869689.1:p.Ser209=
XM_017014201.2:c.626C= XP_016869690.1:p.Ser209=
XM_024447378.1:c.527C= XP_024303146.1:p.Ser176=
XM_024447379.1:c.527C= XP_024303147.1:p.Ser176=
XR_002956744.1:n.1142C=