Canonical Allele Identifier: CA4969236

Gene: SLC1A1 SPATA6L

Linked Data

• dbSNP Id: rs761339722
• ExAC: 9:4576682 C / T
• gnomAD v2: 9-4576682-C-T
• gnomAD v3: 9-4576682-C-T
• gnomAD v4: 9-4576682-C-T
• MyVariant Identifiers: chr9:g.4576682C>T (hg19) ; chr9:g.4576682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576682C>T , CM000671.2:g.4576682C>T	GRCh38
NC_000009.11:g.4576682C>T , CM000671.1:g.4576682C>T	GRCh37
NC_000009.10:g.4566682C>T	NCBI36
NG_017044.1:g.91256C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1112C>T (SLC1A1) MANE Select	ENSP00000262352.3:p.Ala371Val
ENST00000262352.7:c.1112C>T (SLC1A1)	ENSP00000262352.3:p.Ala371Val
ENST00000422398.1:c.399C>T (SLC1A1)
ENST00000485616.5:c.*782-22294G>A (SPATA6L)	ENSP00000420003.1:n.*782-22294G>A
NM_004170.5:c.1112C>T (SLC1A1)	NP_004161.4:p.Ala371Val
XM_011518007.1:c.1181C>T (SLC1A1)	XP_011516309.1:p.Ala394Val
XM_011518008.1:c.1121C>T (SLC1A1)	XP_011516310.1:p.Ala374Val
XM_011518009.1:c.1052C>T (SLC1A1)	XP_011516311.1:p.Ala351Val
XM_011518010.1:c.971C>T (SLC1A1)	XP_011516312.1:p.Ala324Val
XM_011518008.3:c.1121C>T (SLC1A1)	XP_011516310.1:p.Ala374Val
XM_011518009.3:c.1052C>T (SLC1A1)	XP_011516311.1:p.Ala351Val
XM_017014882.2:c.*1+27497G>A (SPATA6L)	XP_016870371.1:n.*1+27497G>A
XM_017015042.1:c.1073C>T (SLC1A1)	XP_016870531.1:p.Ala358Val
XM_017015043.1:c.1004C>T (SLC1A1)	XP_016870532.1:p.Ala335Val
XR_001746335.2:n.1478+23971G>A (SPATA6L)
NM_004170.6:c.1112C>T (SLC1A1) MANE Select	NP_004161.4:p.Ala371Val