Canonical Allele Identifier: CA372818543

Gene: SLC1A1 SPATA6L

Linked Data

• MyVariant Identifiers: chr9:g.4576678A>T (hg19) ; chr9:g.4576678A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576678A>T , CM000671.2:g.4576678A>T	GRCh38
NC_000009.11:g.4576678A>T , CM000671.1:g.4576678A>T	GRCh37
NC_000009.10:g.4566678A>T	NCBI36
NG_017044.1:g.91252A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1108A>T (SLC1A1) MANE Select	ENSP00000262352.3:p.Thr370Ser
ENST00000262352.7:c.1108A>T (SLC1A1)	ENSP00000262352.3:p.Thr370Ser
ENST00000422398.1:c.395A>T (SLC1A1)
ENST00000485616.5:c.*782-22290T>A (SPATA6L)	ENSP00000420003.1:n.*782-22290T>A
NM_004170.5:c.1108A>T (SLC1A1)	NP_004161.4:p.Thr370Ser
XM_011518007.1:c.1177A>T (SLC1A1)	XP_011516309.1:p.Thr393Ser
XM_011518008.1:c.1117A>T (SLC1A1)	XP_011516310.1:p.Thr373Ser
XM_011518009.1:c.1048A>T (SLC1A1)	XP_011516311.1:p.Thr350Ser
XM_011518010.1:c.967A>T (SLC1A1)	XP_011516312.1:p.Thr323Ser
XM_011518008.3:c.1117A>T (SLC1A1)	XP_011516310.1:p.Thr373Ser
XM_011518009.3:c.1048A>T (SLC1A1)	XP_011516311.1:p.Thr350Ser
XM_017014882.2:c.*1+27501T>A (SPATA6L)	XP_016870371.1:n.*1+27501T>A
XM_017015042.1:c.1069A>T (SLC1A1)	XP_016870531.1:p.Thr357Ser
XM_017015043.1:c.1000A>T (SLC1A1)	XP_016870532.1:p.Thr334Ser
XR_001746335.2:n.1478+23975T>A (SPATA6L)
NM_004170.6:c.1108A>T (SLC1A1) MANE Select	NP_004161.4:p.Thr370Ser