Canonical Allele Identifier: CA3172999517
Community Standard Title: NM_006415.4(SPTLC1):c.985-91T=
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92047359A= , CM000671.2:g.92047359A= GRCh38
NC_000009.11:g.94809641A= , CM000671.1:g.94809641A= GRCh37
NC_000009.10:g.93849462A= NCBI36
NG_007950.1:g.73050T= , LRG_272:g.73050T=

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.985-91T= MANE Select NP_006406.1:n.985-91T=
ENST00000262554.7:c.985-91T= MANE Select ENSP00000262554.2:n.985-91T=
NM_001281303.1:c.985-91T= NP_001268232.1:n.985-91T=
NM_001281303.2:c.985-91T= NP_001268232.1:n.985-91T=
NM_001368272.1:c.619-91T= NP_001355201.1:n.619-91T=
NM_001368273.1:c.520-91T= NP_001355202.1:n.520-91T=
NM_006415.3:c.985-91T= NP_006406.1:n.985-91T=
ENST00000262554.6:c.985-91T= ENSP00000262554.2:n.985-91T=
ENST00000482632.6:n.1395-91T=
ENST00000642671.1:c.1226-91T= ENSP00000495764.1:n.1226-91T=
ENST00000643599.1:c.1053-91T= ENSP00000494770.1:n.1053-91T=
ENST00000644140.1:c.*726-91T= ENSP00000493933.1:n.*726-91T=
ENST00000646481.1:c.857-91T= ENSP00000496627.1:n.857-91T=
ENST00000646534.1:c.*788-91T= ENSP00000495388.1:n.*788-91T=
ENST00000686600.1:c.985-91T= ENSP00000509268.1:n.985-91T=
ENST00000686799.1:n.1082-91T=
ENST00000687427.1:c.985-91T= ENSP00000509426.1:n.985-91T=
ENST00000687817.1:c.*1041T= ENSP00000508926.1:n.*1041T=
ENST00000687972.1:c.1045-91T= ENSP00000509208.1:n.1045-91T=
ENST00000689261.1:n.892-91T=
ENST00000689401.1:c.*1235-91T= ENSP00000510251.1:n.*1235-91T=
ENST00000689423.1:c.*1235-91T= ENSP00000508519.1:n.*1235-91T=
ENST00000690095.1:n.1313-91T=
ENST00000690139.1:c.*686-91T= ENSP00000510483.1:n.*686-91T=
ENST00000692458.1:n.1261T=
ENST00000693147.1:c.*1001-91T= ENSP00000510358.1:n.*1001-91T=
XM_011518138.1:c.985-91T= XP_011516440.1:n.985-91T=
XM_011518138.2:c.985-91T= XP_011516440.1:n.985-91T=
XM_011518139.1:c.520-91T= XP_011516441.1:n.520-91T=
XM_011518139.3:c.520-91T= XP_011516441.1:n.520-91T=
XM_017014200.2:c.619-91T= XP_016869689.1:n.619-91T=
XM_017014201.2:c.619-91T= XP_016869690.1:n.619-91T=
XM_024447378.1:c.520-91T= XP_024303146.1:n.520-91T=
XM_024447379.1:c.520-91T= XP_024303147.1:n.520-91T=
XR_002956744.1:n.1135-91T=