Canonical Allele Identifier: CA373790313
Gene: SPTLC1 HGNC NCBI

Linked Data

gnomAD v4: 9-92038252-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92038252T>C , CM000671.2:g.92038252T>C GRCh38
NC_000009.11:g.94800534T>C , CM000671.1:g.94800534T>C GRCh37
NC_000009.10:g.93840355T>C NCBI36
NG_007950.1:g.82157A>G , LRG_272:g.82157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.1660A>G
ENST00000686600.1:c.1250A>G ENSP00000509268.1:p.Asp417Gly
ENST00000686799.1:n.1347A>G
ENST00000687427.1:c.1250A>G ENSP00000509426.1:p.Asp417Gly
ENST00000687817.1:c.*1397A>G ENSP00000508926.1:n.*1397A>G
ENST00000687972.1:c.1310A>G ENSP00000509208.1:p.Asp437Gly
ENST00000689261.1:n.1157A>G
ENST00000689401.1:c.*1500A>G ENSP00000510251.1:n.*1500A>G
ENST00000689423.1:c.*1500A>G ENSP00000508519.1:n.*1500A>G
ENST00000690095.1:n.1638A>G
ENST00000690139.1:c.*951A>G ENSP00000510483.1:n.*951A>G
ENST00000692458.1:n.1617A>G
ENST00000693147.1:c.*1266A>G ENSP00000510358.1:n.*1266A>G
ENST00000262554.7:c.1250A>G MANE Select ENSP00000262554.2:p.Asp417Gly
ENST00000642671.1:c.1551A>G ENSP00000495764.1:n.1551A>G
ENST00000643599.1:c.1318A>G ENSP00000494770.1:n.1318A>G
ENST00000644140.1:c.*991A>G ENSP00000493933.1:n.*991A>G
ENST00000646481.1:c.1182A>G ENSP00000496627.1:n.1182A>G
ENST00000646534.1:c.*1053A>G ENSP00000495388.1:n.*1053A>G
ENST00000262554.6:c.1250A>G ENSP00000262554.2:p.Asp417Gly
ENST00000469778.1:n.207A>G
NM_001281303.1:c.1250A>G NP_001268232.1:p.Asp417Gly
NM_006415.3:c.1250A>G NP_006406.1:p.Asp417Gly
XM_011518139.1:c.785A>G XP_011516441.1:p.Asp262Gly
XM_011518139.3:c.785A>G XP_011516441.1:p.Asp262Gly
XM_017014200.2:c.884A>G XP_016869689.1:p.Asp295Gly
XM_017014201.2:c.884A>G XP_016869690.1:p.Asp295Gly
XM_024447378.1:c.785A>G XP_024303146.1:p.Asp262Gly
XM_024447379.1:c.785A>G XP_024303147.1:p.Asp262Gly
XR_002956744.1:n.1400A>G
NM_006415.4:c.1250A>G MANE Select NP_006406.1:p.Asp417Gly
NM_001281303.2:c.1250A>G NP_001268232.1:p.Asp417Gly
NM_001368272.1:c.884A>G NP_001355201.1:p.Asp295Gly
NM_001368273.1:c.785A>G NP_001355202.1:p.Asp262Gly