Canonical Allele Identifier: CA4969233

Gene: SLC1A1 SPATA6L

Linked Data

• dbSNP Id: rs775964685
• ExAC: 9:4576679 C / A
• gnomAD v2: 9-4576679-C-A
• gnomAD v4: 9-4576679-C-A
• MyVariant Identifiers: chr9:g.4576679C>A (hg19) ; chr9:g.4576679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576679C>A , CM000671.2:g.4576679C>A	GRCh38
NC_000009.11:g.4576679C>A , CM000671.1:g.4576679C>A	GRCh37
NC_000009.10:g.4566679C>A	NCBI36
NG_017044.1:g.91253C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1109C>A (SLC1A1) MANE Select	ENSP00000262352.3:p.Thr370Asn
ENST00000262352.7:c.1109C>A (SLC1A1)	ENSP00000262352.3:p.Thr370Asn
ENST00000422398.1:c.396C>A (SLC1A1)
ENST00000485616.5:c.*782-22291G>T (SPATA6L)	ENSP00000420003.1:n.*782-22291G>T
NM_004170.5:c.1109C>A (SLC1A1)	NP_004161.4:p.Thr370Asn
XM_011518007.1:c.1178C>A (SLC1A1)	XP_011516309.1:p.Thr393Asn
XM_011518008.1:c.1118C>A (SLC1A1)	XP_011516310.1:p.Thr373Asn
XM_011518009.1:c.1049C>A (SLC1A1)	XP_011516311.1:p.Thr350Asn
XM_011518010.1:c.968C>A (SLC1A1)	XP_011516312.1:p.Thr323Asn
XM_011518008.3:c.1118C>A (SLC1A1)	XP_011516310.1:p.Thr373Asn
XM_011518009.3:c.1049C>A (SLC1A1)	XP_011516311.1:p.Thr350Asn
XM_017014882.2:c.*1+27500G>T (SPATA6L)	XP_016870371.1:n.*1+27500G>T
XM_017015042.1:c.1070C>A (SLC1A1)	XP_016870531.1:p.Thr357Asn
XM_017015043.1:c.1001C>A (SLC1A1)	XP_016870532.1:p.Thr334Asn
XR_001746335.2:n.1478+23974G>T (SPATA6L)
NM_004170.6:c.1109C>A (SLC1A1) MANE Select	NP_004161.4:p.Thr370Asn