Canonical Allele Identifier: CA372818527

Gene: SLC1A1 SPATA6L

Linked Data

• gnomAD v4: 9-4576675-G-T
• MyVariant Identifiers: chr9:g.4576675G>T (hg19) ; chr9:g.4576675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576675G>T , CM000671.2:g.4576675G>T	GRCh38
NC_000009.11:g.4576675G>T , CM000671.1:g.4576675G>T	GRCh37
NC_000009.10:g.4566675G>T	NCBI36
NG_017044.1:g.91249G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1105G>T (SLC1A1) MANE Select	ENSP00000262352.3:p.Gly369Trp
ENST00000262352.7:c.1105G>T (SLC1A1)	ENSP00000262352.3:p.Gly369Trp
ENST00000422398.1:c.392G>T (SLC1A1)
ENST00000485616.5:c.*782-22287C>A (SPATA6L)	ENSP00000420003.1:n.*782-22287C>A
NM_004170.5:c.1105G>T (SLC1A1)	NP_004161.4:p.Gly369Trp
XM_011518007.1:c.1174G>T (SLC1A1)	XP_011516309.1:p.Gly392Trp
XM_011518008.1:c.1114G>T (SLC1A1)	XP_011516310.1:p.Gly372Trp
XM_011518009.1:c.1045G>T (SLC1A1)	XP_011516311.1:p.Gly349Trp
XM_011518010.1:c.964G>T (SLC1A1)	XP_011516312.1:p.Gly322Trp
XM_011518008.3:c.1114G>T (SLC1A1)	XP_011516310.1:p.Gly372Trp
XM_011518009.3:c.1045G>T (SLC1A1)	XP_011516311.1:p.Gly349Trp
XM_017014882.2:c.*1+27504C>A (SPATA6L)	XP_016870371.1:n.*1+27504C>A
XM_017015042.1:c.1066G>T (SLC1A1)	XP_016870531.1:p.Gly356Trp
XM_017015043.1:c.997G>T (SLC1A1)	XP_016870532.1:p.Gly333Trp
XR_001746335.2:n.1478+23978C>A (SPATA6L)
NM_004170.6:c.1105G>T (SLC1A1) MANE Select	NP_004161.4:p.Gly369Trp