Canonical Allele Identifier: CA463728610

Gene: SLC1A1 SPATA6L

Linked Data

• MyVariant Identifiers: chr9:g.4576686C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576686C>G , CM000671.2:g.4576686C>G	GRCh38
NC_000009.11:g.4576686C>G , CM000671.1:g.4576686C>G	GRCh37
NC_000009.10:g.4566686C>G	NCBI36
NG_017044.1:g.91260C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1116C>G (SLC1A1) MANE Select	ENSP00000262352.3:p.Leu372=
ENST00000262352.7:c.1116C>G (SLC1A1)	ENSP00000262352.3:p.Leu372=
ENST00000422398.1:c.403C>G (SLC1A1)
ENST00000485616.5:c.*782-22298G>C (SPATA6L)	ENSP00000420003.1:n.*782-22298G>C
NM_004170.5:c.1116C>G (SLC1A1)	NP_004161.4:p.Leu372=
XM_011518007.1:c.1185C>G (SLC1A1)	XP_011516309.1:p.Leu395=
XM_011518008.1:c.1125C>G (SLC1A1)	XP_011516310.1:p.Leu375=
XM_011518009.1:c.1056C>G (SLC1A1)	XP_011516311.1:p.Leu352=
XM_011518010.1:c.975C>G (SLC1A1)	XP_011516312.1:p.Leu325=
XM_011518008.3:c.1125C>G (SLC1A1)	XP_011516310.1:p.Leu375=
XM_011518009.3:c.1056C>G (SLC1A1)	XP_011516311.1:p.Leu352=
XM_017014882.2:c.*1+27493G>C (SPATA6L)	XP_016870371.1:n.*1+27493G>C
XM_017015042.1:c.1077C>G (SLC1A1)	XP_016870531.1:p.Leu359=
XM_017015043.1:c.1008C>G (SLC1A1)	XP_016870532.1:p.Leu336=
XR_001746335.2:n.1478+23967G>C (SPATA6L)
NM_004170.6:c.1116C>G (SLC1A1) MANE Select	NP_004161.4:p.Leu372=