Canonical Allele Identifier: CA2689285210

Gene: SLC1A1 SPATA6L

Linked Data

• gnomAD v4: 9-4576788-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576788G>T , CM000671.2:g.4576788G>T	GRCh38
NC_000009.11:g.4576788G>T , CM000671.1:g.4576788G>T	GRCh37
NC_000009.10:g.4566788G>T	NCBI36
NG_017044.1:g.91362G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1193+25G>T (SLC1A1) MANE Select	ENSP00000262352.3:n.1193+25G>T
ENST00000262352.7:c.1193+25G>T (SLC1A1)	ENSP00000262352.3:n.1193+25G>T
ENST00000422398.1:c.480+25G>T (SLC1A1)
ENST00000485616.5:c.*782-22400C>A (SPATA6L)	ENSP00000420003.1:n.*782-22400C>A
NM_004170.5:c.1193+25G>T (SLC1A1)	NP_004161.4:n.1193+25G>T
XM_011518007.1:c.1262+25G>T (SLC1A1)	XP_011516309.1:n.1262+25G>T
XM_011518008.1:c.1202+25G>T (SLC1A1)	XP_011516310.1:n.1202+25G>T
XM_011518009.1:c.1133+25G>T (SLC1A1)	XP_011516311.1:n.1133+25G>T
XM_011518010.1:c.1052+25G>T (SLC1A1)	XP_011516312.1:n.1052+25G>T
XM_011518008.3:c.1202+25G>T (SLC1A1)	XP_011516310.1:n.1202+25G>T
XM_011518009.3:c.1133+25G>T (SLC1A1)	XP_011516311.1:n.1133+25G>T
XM_017014882.2:c.*1+27391C>A (SPATA6L)	XP_016870371.1:n.*1+27391C>A
XM_017015042.1:c.1154+25G>T (SLC1A1)	XP_016870531.1:n.1154+25G>T
XM_017015043.1:c.1085+25G>T (SLC1A1)	XP_016870532.1:n.1085+25G>T
XR_001746335.2:n.1478+23865C>A (SPATA6L)
NM_004170.6:c.1193+25G>T (SLC1A1) MANE Select	NP_004161.4:n.1193+25G>T