Canonical Allele Identifier: CA13006093

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4582843T>C , CM000671.2:g.4582843T>C	GRCh38
NC_000009.11:g.4582843T>C , CM000671.1:g.4582843T>C	GRCh37
NC_000009.10:g.4572843T>C	NCBI36
NG_017044.1:g.97417T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004170.6:c.1194-195T>C (SLC1A1) MANE Select	NP_004161.4:n.1194-195T>C
ENST00000262352.8:c.1194-195T>C (SLC1A1) MANE Select	ENSP00000262352.3:n.1194-195T>C
NM_004170.5:c.1194-195T>C (SLC1A1)	NP_004161.4:n.1194-195T>C
ENST00000262352.7:c.1194-195T>C (SLC1A1)	ENSP00000262352.3:n.1194-195T>C
ENST00000422398.1:c.481-2469T>C (SLC1A1)
ENST00000485616.5:c.*781+17810A>G (SPATA6L)	ENSP00000420003.1:n.*781+17810A>G
XM_011518007.1:c.1263-195T>C (SLC1A1)	XP_011516309.1:n.1263-195T>C
XM_011518008.1:c.1203-195T>C (SLC1A1)	XP_011516310.1:n.1203-195T>C
XM_011518008.3:c.1203-195T>C (SLC1A1)	XP_011516310.1:n.1203-195T>C
XM_011518009.1:c.1134-195T>C (SLC1A1)	XP_011516311.1:n.1134-195T>C
XM_011518009.3:c.1134-195T>C (SLC1A1)	XP_011516311.1:n.1134-195T>C
XM_011518010.1:c.1053-195T>C (SLC1A1)	XP_011516312.1:n.1053-195T>C
XM_017014882.2:c.*1+21336A>G (SPATA6L)	XP_016870371.1:n.*1+21336A>G
XM_017015042.1:c.1155-195T>C (SLC1A1)	XP_016870531.1:n.1155-195T>C
XM_017015043.1:c.1086-195T>C (SLC1A1)	XP_016870532.1:n.1086-195T>C
XR_001746335.2:n.1478+17810A>G (SPATA6L)