Canonical Allele Identifier: CA4969255

Gene: SLC1A1 SPATA6L

Linked Data

• ClinVar Variation Id: 367054
• ClinVar RCV Id: RCV001712351
• dbSNP Id: rs1471786
• ExAC: 9:4576774 G / A
• gnomAD v2: 9-4576774-G-A
• gnomAD v3: 9-4576774-G-A
• gnomAD v4: 9-4576774-G-A
• MyVariant Identifiers: chr9:g.4576774G>A (hg19) ; chr9:g.4576774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576774G>A , CM000671.2:g.4576774G>A	GRCh38
NC_000009.11:g.4576774G>A , CM000671.1:g.4576774G>A	GRCh37
NC_000009.10:g.4566774G>A	NCBI36
NG_017044.1:g.91348G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1193+11G>A (SLC1A1) MANE Select	ENSP00000262352.3:n.1193+11G>A
ENST00000262352.7:c.1193+11G>A (SLC1A1)	ENSP00000262352.3:n.1193+11G>A
ENST00000422398.1:c.480+11G>A (SLC1A1)
ENST00000485616.5:c.*782-22386C>T (SPATA6L)	ENSP00000420003.1:n.*782-22386C>T
NM_004170.5:c.1193+11G>A (SLC1A1)	NP_004161.4:n.1193+11G>A
XM_011518007.1:c.1262+11G>A (SLC1A1)	XP_011516309.1:n.1262+11G>A
XM_011518008.1:c.1202+11G>A (SLC1A1)	XP_011516310.1:n.1202+11G>A
XM_011518009.1:c.1133+11G>A (SLC1A1)	XP_011516311.1:n.1133+11G>A
XM_011518010.1:c.1052+11G>A (SLC1A1)	XP_011516312.1:n.1052+11G>A
XM_011518008.3:c.1202+11G>A (SLC1A1)	XP_011516310.1:n.1202+11G>A
XM_011518009.3:c.1133+11G>A (SLC1A1)	XP_011516311.1:n.1133+11G>A
XM_017014882.2:c.*1+27405C>T (SPATA6L)	XP_016870371.1:n.*1+27405C>T
XM_017015042.1:c.1154+11G>A (SLC1A1)	XP_016870531.1:n.1154+11G>A
XM_017015043.1:c.1085+11G>A (SLC1A1)	XP_016870532.1:n.1085+11G>A
XR_001746335.2:n.1478+23879C>T (SPATA6L)
NM_004170.6:c.1193+11G>A (SLC1A1) MANE Select	NP_004161.4:n.1193+11G>A