Canonical Allele Identifier: CA4969234

Gene: SLC1A1 SPATA6L

Linked Data

• ClinVar Variation Id: 367052
• ClinVar RCV Id: RCV001672730
• dbSNP Id: rs301430
• ExAC: 9:4576680 T / C
• gnomAD v2: 9-4576680-T-C
• gnomAD v3: 9-4576680-T-C
• gnomAD v4: 9-4576680-T-C
• COSMIC: COSM3763952
• MyVariant Identifiers: chr9:g.4576680T>C (hg19) ; chr9:g.4576680T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576680T>C , CM000671.2:g.4576680T>C	GRCh38
NC_000009.11:g.4576680T>C , CM000671.1:g.4576680T>C	GRCh37
NC_000009.10:g.4566680T>C	NCBI36
NG_017044.1:g.91254T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1110T>C (SLC1A1) MANE Select	ENSP00000262352.3:p.Thr370=
ENST00000262352.7:c.1110T>C (SLC1A1)	ENSP00000262352.3:p.Thr370=
ENST00000422398.1:c.397T>C (SLC1A1)
ENST00000485616.5:c.*782-22292A>G (SPATA6L)	ENSP00000420003.1:n.*782-22292A>G
NM_004170.5:c.1110T>C (SLC1A1)	NP_004161.4:p.Thr370=
XM_011518007.1:c.1179T>C (SLC1A1)	XP_011516309.1:p.Thr393=
XM_011518008.1:c.1119T>C (SLC1A1)	XP_011516310.1:p.Thr373=
XM_011518009.1:c.1050T>C (SLC1A1)	XP_011516311.1:p.Thr350=
XM_011518010.1:c.969T>C (SLC1A1)	XP_011516312.1:p.Thr323=
XM_011518008.3:c.1119T>C (SLC1A1)	XP_011516310.1:p.Thr373=
XM_011518009.3:c.1050T>C (SLC1A1)	XP_011516311.1:p.Thr350=
XM_017014882.2:c.*1+27499A>G (SPATA6L)	XP_016870371.1:n.*1+27499A>G
XM_017015042.1:c.1071T>C (SLC1A1)	XP_016870531.1:p.Thr357=
XM_017015043.1:c.1002T>C (SLC1A1)	XP_016870532.1:p.Thr334=
XR_001746335.2:n.1478+23973A>G (SPATA6L)
NM_004170.6:c.1110T>C (SLC1A1) MANE Select	NP_004161.4:p.Thr370=