Canonical Allele Identifier: CA2580859961

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4572480T>A , CM000671.2:g.4572480T>A	GRCh38
NC_000009.11:g.4572480T>A , CM000671.1:g.4572480T>A	GRCh37
NC_000009.10:g.4562480T>A	NCBI36
NG_017044.1:g.87054T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004170.6:c.767+92T>A (SLC1A1) MANE Select	NP_004161.4:n.767+92T>A
ENST00000262352.8:c.767+92T>A (SLC1A1) MANE Select	ENSP00000262352.3:n.767+92T>A
NM_004170.5:c.767+92T>A (SLC1A1)	NP_004161.4:n.767+92T>A
ENST00000262352.7:c.767+92T>A (SLC1A1)	ENSP00000262352.3:n.767+92T>A
ENST00000422398.1:c.54+92T>A (SLC1A1)
ENST00000485616.5:c.*782-18092A>T (SPATA6L)	ENSP00000420003.1:n.*782-18092A>T
XM_011518007.1:c.836+92T>A (SLC1A1)	XP_011516309.1:n.836+92T>A
XM_011518008.1:c.776+92T>A (SLC1A1)	XP_011516310.1:n.776+92T>A
XM_011518008.3:c.776+92T>A (SLC1A1)	XP_011516310.1:n.776+92T>A
XM_011518009.1:c.707+92T>A (SLC1A1)	XP_011516311.1:n.707+92T>A
XM_011518009.3:c.707+92T>A (SLC1A1)	XP_011516311.1:n.707+92T>A
XM_011518010.1:c.626+92T>A (SLC1A1)	XP_011516312.1:n.626+92T>A
XM_017014882.2:c.*2-31290A>T (SPATA6L)	XP_016870371.1:n.*2-31290A>T
XM_017015042.1:c.836+92T>A (SLC1A1)	XP_016870531.1:n.836+92T>A
XM_017015043.1:c.767+92T>A (SLC1A1)	XP_016870532.1:n.767+92T>A
XR_001746335.2:n.1478+28173A>T (SPATA6L)