Canonical Allele Identifier: CA1829379590
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI
gnomAD v4:
chr9-4574022-A-T
Joint Max Group AF 0.0000019 (NFE)
Exomes Max Group AF 0.00000202 (NFE)
dbSNP:
12682807
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4574022A>T , CM000671.2:g.4574022A>T GRCh38
NC_000009.11:g.4574022A>T , CM000671.1:g.4574022A>T GRCh37
NC_000009.10:g.4564022A>T NCBI36
NG_017044.1:g.88596A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.875+8A>T (SLC1A1) MANE Select ENSP00000262352.3:n.875+8A>T
ENST00000262352.7:c.875+8A>T (SLC1A1) ENSP00000262352.3:n.875+8A>T
ENST00000422398.1:c.162+8A>T (SLC1A1)
ENST00000485616.5:c.*782-19634T>A (SPATA6L) ENSP00000420003.1:n.*782-19634T>A
NM_004170.5:c.875+8A>T (SLC1A1) NP_004161.4:n.875+8A>T
XM_011518007.1:c.944+8A>T (SLC1A1) XP_011516309.1:n.944+8A>T
XM_011518008.1:c.884+8A>T (SLC1A1) XP_011516310.1:n.884+8A>T
XM_011518009.1:c.815+8A>T (SLC1A1) XP_011516311.1:n.815+8A>T
XM_011518010.1:c.734+8A>T (SLC1A1) XP_011516312.1:n.734+8A>T
XM_011518008.3:c.884+8A>T (SLC1A1) XP_011516310.1:n.884+8A>T
XM_011518009.3:c.815+8A>T (SLC1A1) XP_011516311.1:n.815+8A>T
XM_017014882.2:c.*1+30157T>A (SPATA6L) XP_016870371.1:n.*1+30157T>A
XM_017015042.1:c.836+1634A>T (SLC1A1) XP_016870531.1:n.836+1634A>T
XM_017015043.1:c.767+1634A>T (SLC1A1) XP_016870532.1:n.767+1634A>T
XR_001746335.2:n.1478+26631T>A (SPATA6L)
NM_004170.6:c.875+8A>T (SLC1A1) MANE Select NP_004161.4:n.875+8A>T
Search 100 bp 5'
Search 100 bp 3'