Canonical Allele Identifier: CA4969257

Gene: SLC1A1 SPATA6L

Linked Data

• dbSNP Id: rs760130029
• ExAC: 9:4576786 T / C
• gnomAD v2: 9-4576786-T-C
• gnomAD v4: 9-4576786-T-C
• MyVariant Identifiers: chr9:g.4576786T>C (hg19) ; chr9:g.4576786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576786T>C , CM000671.2:g.4576786T>C	GRCh38
NC_000009.11:g.4576786T>C , CM000671.1:g.4576786T>C	GRCh37
NC_000009.10:g.4566786T>C	NCBI36
NG_017044.1:g.91360T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1193+23T>C (SLC1A1) MANE Select	ENSP00000262352.3:n.1193+23T>C
ENST00000262352.7:c.1193+23T>C (SLC1A1)	ENSP00000262352.3:n.1193+23T>C
ENST00000422398.1:c.480+23T>C (SLC1A1)
ENST00000485616.5:c.*782-22398A>G (SPATA6L)	ENSP00000420003.1:n.*782-22398A>G
NM_004170.5:c.1193+23T>C (SLC1A1)	NP_004161.4:n.1193+23T>C
XM_011518007.1:c.1262+23T>C (SLC1A1)	XP_011516309.1:n.1262+23T>C
XM_011518008.1:c.1202+23T>C (SLC1A1)	XP_011516310.1:n.1202+23T>C
XM_011518009.1:c.1133+23T>C (SLC1A1)	XP_011516311.1:n.1133+23T>C
XM_011518010.1:c.1052+23T>C (SLC1A1)	XP_011516312.1:n.1052+23T>C
XM_011518008.3:c.1202+23T>C (SLC1A1)	XP_011516310.1:n.1202+23T>C
XM_011518009.3:c.1133+23T>C (SLC1A1)	XP_011516311.1:n.1133+23T>C
XM_017014882.2:c.*1+27393A>G (SPATA6L)	XP_016870371.1:n.*1+27393A>G
XM_017015042.1:c.1154+23T>C (SLC1A1)	XP_016870531.1:n.1154+23T>C
XM_017015043.1:c.1085+23T>C (SLC1A1)	XP_016870532.1:n.1085+23T>C
XR_001746335.2:n.1478+23867A>G (SPATA6L)
NM_004170.6:c.1193+23T>C (SLC1A1) MANE Select	NP_004161.4:n.1193+23T>C