Canonical Allele Identifier: CA1829385595
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4576682C= , CM000671.2:g.4576682C= GRCh38
NC_000009.11:g.4576682C= , CM000671.1:g.4576682C= GRCh37
NC_000009.10:g.4566682C= NCBI36
NG_017044.1:g.91256C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262352.8:c.1112C= (SLC1A1) MANE Select ENSP00000262352.3:p.Ala371=
ENST00000262352.7:c.1112C= (SLC1A1) ENSP00000262352.3:p.Ala371=
ENST00000422398.1:c.399C= (SLC1A1)
ENST00000485616.5:c.*782-22294G= (SPATA6L) ENSP00000420003.1:n.*782-22294G=
NM_004170.5:c.1112C= (SLC1A1) NP_004161.4:p.Ala371=
XM_011518007.1:c.1181C= (SLC1A1) XP_011516309.1:p.Ala394=
XM_011518008.1:c.1121C= (SLC1A1) XP_011516310.1:p.Ala374=
XM_011518009.1:c.1052C= (SLC1A1) XP_011516311.1:p.Ala351=
XM_011518010.1:c.971C= (SLC1A1) XP_011516312.1:p.Ala324=
XM_011518008.3:c.1121C= (SLC1A1) XP_011516310.1:p.Ala374=
XM_011518009.3:c.1052C= (SLC1A1) XP_011516311.1:p.Ala351=
XM_017014882.2:c.*1+27497G= (SPATA6L) XP_016870371.1:n.*1+27497G=
XM_017015042.1:c.1073C= (SLC1A1) XP_016870531.1:p.Ala358=
XM_017015043.1:c.1004C= (SLC1A1) XP_016870532.1:p.Ala335=
XR_001746335.2:n.1478+23971G= (SPATA6L)
NM_004170.6:c.1112C= (SLC1A1) MANE Select NP_004161.4:p.Ala371=