Canonical Allele Identifier: CA4969235

Gene: SLC1A1 SPATA6L

Linked Data

• dbSNP Id: rs774159792
• ExAC: 9:4576681 G / A
• gnomAD v2: 9-4576681-G-A
• gnomAD v3: 9-4576681-G-A
• gnomAD v4: 9-4576681-G-A
• MyVariant Identifiers: chr9:g.4576681G>A (hg19) ; chr9:g.4576681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576681G>A , CM000671.2:g.4576681G>A	GRCh38
NC_000009.11:g.4576681G>A , CM000671.1:g.4576681G>A	GRCh37
NC_000009.10:g.4566681G>A	NCBI36
NG_017044.1:g.91255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1111G>A (SLC1A1) MANE Select	ENSP00000262352.3:p.Ala371Thr
ENST00000262352.7:c.1111G>A (SLC1A1)	ENSP00000262352.3:p.Ala371Thr
ENST00000422398.1:c.398G>A (SLC1A1)
ENST00000485616.5:c.*782-22293C>T (SPATA6L)	ENSP00000420003.1:n.*782-22293C>T
NM_004170.5:c.1111G>A (SLC1A1)	NP_004161.4:p.Ala371Thr
XM_011518007.1:c.1180G>A (SLC1A1)	XP_011516309.1:p.Ala394Thr
XM_011518008.1:c.1120G>A (SLC1A1)	XP_011516310.1:p.Ala374Thr
XM_011518009.1:c.1051G>A (SLC1A1)	XP_011516311.1:p.Ala351Thr
XM_011518010.1:c.970G>A (SLC1A1)	XP_011516312.1:p.Ala324Thr
XM_011518008.3:c.1120G>A (SLC1A1)	XP_011516310.1:p.Ala374Thr
XM_011518009.3:c.1051G>A (SLC1A1)	XP_011516311.1:p.Ala351Thr
XM_017014882.2:c.*1+27498C>T (SPATA6L)	XP_016870371.1:n.*1+27498C>T
XM_017015042.1:c.1072G>A (SLC1A1)	XP_016870531.1:p.Ala358Thr
XM_017015043.1:c.1003G>A (SLC1A1)	XP_016870532.1:p.Ala335Thr
XR_001746335.2:n.1478+23972C>T (SPATA6L)
NM_004170.6:c.1111G>A (SLC1A1) MANE Select	NP_004161.4:p.Ala371Thr