Canonical Allele Identifier: CA1829397288
Community Standard Title: NM_004170.6(SLC1A1):c.1333C= (p.Arg445=)
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4585316C= , CM000671.2:g.4585316C= GRCh38
NC_000009.11:g.4585316C= , CM000671.1:g.4585316C= GRCh37
NC_000009.10:g.4575316C= NCBI36
NG_017044.1:g.99890C=

Transcript Alleles

HGVS Amino-acid Change
NM_004170.6:c.1333C= (SLC1A1) MANE Select NP_004161.4:p.Arg445=
ENST00000262352.8:c.1333C= (SLC1A1) MANE Select ENSP00000262352.3:p.Arg445=
NM_004170.5:c.1333C= (SLC1A1) NP_004161.4:p.Arg445=
ENST00000262352.7:c.1333C= (SLC1A1) ENSP00000262352.3:p.Arg445=
ENST00000422398.1:c.485C= (SLC1A1)
ENST00000485616.5:c.*781+15337G= (SPATA6L) ENSP00000420003.1:n.*781+15337G=
XM_011518007.1:c.1402C= (SLC1A1) XP_011516309.1:p.Arg468=
XM_011518008.1:c.1342C= (SLC1A1) XP_011516310.1:p.Arg448=
XM_011518008.3:c.1342C= (SLC1A1) XP_011516310.1:p.Arg448=
XM_011518009.1:c.1273C= (SLC1A1) XP_011516311.1:p.Arg425=
XM_011518009.3:c.1273C= (SLC1A1) XP_011516311.1:p.Arg425=
XM_011518010.1:c.1192C= (SLC1A1) XP_011516312.1:p.Arg398=
XM_017014882.2:c.*1+18863G= (SPATA6L) XP_016870371.1:n.*1+18863G=
XM_017015042.1:c.1294C= (SLC1A1) XP_016870531.1:p.Arg432=
XM_017015043.1:c.1225C= (SLC1A1) XP_016870532.1:p.Arg409=
XR_001746335.2:n.1478+15337G= (SPATA6L)