Canonical Allele Identifier: CA1829385759
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4576800A= , CM000671.2:g.4576800A= GRCh38
NC_000009.11:g.4576800A= , CM000671.1:g.4576800A= GRCh37
NC_000009.10:g.4566800A= NCBI36
NG_017044.1:g.91374A=

Transcript Alleles

HGVS Amino-acid change
ENST00000262352.8:c.1193+37A= (SLC1A1) MANE Select ENSP00000262352.3:n.1193+37A=
ENST00000262352.7:c.1193+37A= (SLC1A1) ENSP00000262352.3:n.1193+37A=
ENST00000422398.1:c.480+37A= (SLC1A1)
ENST00000485616.5:c.*782-22412T= (SPATA6L) ENSP00000420003.1:n.*782-22412T=
NM_004170.5:c.1193+37A= (SLC1A1) NP_004161.4:n.1193+37A=
XM_011518007.1:c.1262+37A= (SLC1A1) XP_011516309.1:n.1262+37A=
XM_011518008.1:c.1202+37A= (SLC1A1) XP_011516310.1:n.1202+37A=
XM_011518009.1:c.1133+37A= (SLC1A1) XP_011516311.1:n.1133+37A=
XM_011518010.1:c.1052+37A= (SLC1A1) XP_011516312.1:n.1052+37A=
XM_011518008.3:c.1202+37A= (SLC1A1) XP_011516310.1:n.1202+37A=
XM_011518009.3:c.1133+37A= (SLC1A1) XP_011516311.1:n.1133+37A=
XM_017014882.2:c.*1+27379T= (SPATA6L) XP_016870371.1:n.*1+27379T=
XM_017015042.1:c.1154+37A= (SLC1A1) XP_016870531.1:n.1154+37A=
XM_017015043.1:c.1085+37A= (SLC1A1) XP_016870532.1:n.1085+37A=
XR_001746335.2:n.1478+23853T= (SPATA6L)
NM_004170.6:c.1193+37A= (SLC1A1) MANE Select NP_004161.4:n.1193+37A=