Canonical Allele Identifier: CA372818573

Gene: SLC1A1 SPATA6L

Linked Data

• MyVariant Identifiers: chr9:g.4576685T>G (hg19) ; chr9:g.4576685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576685T>G , CM000671.2:g.4576685T>G	GRCh38
NC_000009.11:g.4576685T>G , CM000671.1:g.4576685T>G	GRCh37
NC_000009.10:g.4566685T>G	NCBI36
NG_017044.1:g.91259T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1115T>G (SLC1A1) MANE Select	ENSP00000262352.3:p.Leu372Arg
ENST00000262352.7:c.1115T>G (SLC1A1)	ENSP00000262352.3:p.Leu372Arg
ENST00000422398.1:c.402T>G (SLC1A1)
ENST00000485616.5:c.*782-22297A>C (SPATA6L)	ENSP00000420003.1:n.*782-22297A>C
NM_004170.5:c.1115T>G (SLC1A1)	NP_004161.4:p.Leu372Arg
XM_011518007.1:c.1184T>G (SLC1A1)	XP_011516309.1:p.Leu395Arg
XM_011518008.1:c.1124T>G (SLC1A1)	XP_011516310.1:p.Leu375Arg
XM_011518009.1:c.1055T>G (SLC1A1)	XP_011516311.1:p.Leu352Arg
XM_011518010.1:c.974T>G (SLC1A1)	XP_011516312.1:p.Leu325Arg
XM_011518008.3:c.1124T>G (SLC1A1)	XP_011516310.1:p.Leu375Arg
XM_011518009.3:c.1055T>G (SLC1A1)	XP_011516311.1:p.Leu352Arg
XM_017014882.2:c.*1+27494A>C (SPATA6L)	XP_016870371.1:n.*1+27494A>C
XM_017015042.1:c.1076T>G (SLC1A1)	XP_016870531.1:p.Leu359Arg
XM_017015043.1:c.1007T>G (SLC1A1)	XP_016870532.1:p.Leu336Arg
XR_001746335.2:n.1478+23968A>C (SPATA6L)
NM_004170.6:c.1115T>G (SLC1A1) MANE Select	NP_004161.4:p.Leu372Arg