Canonical Allele Identifier: CA372818547
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4576679C>G , CM000671.2:g.4576679C>G GRCh38
NC_000009.11:g.4576679C>G , CM000671.1:g.4576679C>G GRCh37
NC_000009.10:g.4566679C>G NCBI36
NG_017044.1:g.91253C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262352.8:c.1109C>G (SLC1A1) MANE Select ENSP00000262352.3:p.Thr370Ser
ENST00000262352.7:c.1109C>G (SLC1A1) ENSP00000262352.3:p.Thr370Ser
ENST00000422398.1:c.396C>G (SLC1A1)
ENST00000485616.5:c.*782-22291G>C (SPATA6L) ENSP00000420003.1:n.*782-22291G>C
NM_004170.5:c.1109C>G (SLC1A1) NP_004161.4:p.Thr370Ser
XM_011518007.1:c.1178C>G (SLC1A1) XP_011516309.1:p.Thr393Ser
XM_011518008.1:c.1118C>G (SLC1A1) XP_011516310.1:p.Thr373Ser
XM_011518009.1:c.1049C>G (SLC1A1) XP_011516311.1:p.Thr350Ser
XM_011518010.1:c.968C>G (SLC1A1) XP_011516312.1:p.Thr323Ser
XM_011518008.3:c.1118C>G (SLC1A1) XP_011516310.1:p.Thr373Ser
XM_011518009.3:c.1049C>G (SLC1A1) XP_011516311.1:p.Thr350Ser
XM_017014882.2:c.*1+27500G>C (SPATA6L) XP_016870371.1:n.*1+27500G>C
XM_017015042.1:c.1070C>G (SLC1A1) XP_016870531.1:p.Thr357Ser
XM_017015043.1:c.1001C>G (SLC1A1) XP_016870532.1:p.Thr334Ser
XR_001746335.2:n.1478+23974G>C (SPATA6L)
NM_004170.6:c.1109C>G (SLC1A1) MANE Select NP_004161.4:p.Thr370Ser