Canonical Allele Identifier: CA4969023

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4567667A>G , CM000671.2:g.4567667A>G	GRCh38
NC_000009.11:g.4567667A>G , CM000671.1:g.4567667A>G	GRCh37
NC_000009.10:g.4557667A>G	NCBI36
NG_017044.1:g.82241A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004170.6:c.484-2A>G (SLC1A1) MANE Select	NP_004161.4:n.484-2A>G
ENST00000262352.8:c.484-2A>G (SLC1A1) MANE Select	ENSP00000262352.3:n.484-2A>G
NM_004170.5:c.484-2A>G (SLC1A1)	NP_004161.4:n.484-2A>G
ENST00000262352.7:c.484-2A>G (SLC1A1)	ENSP00000262352.3:n.484-2A>G
ENST00000485616.5:c.*782-13279T>C (SPATA6L)	ENSP00000420003.1:n.*782-13279T>C
XM_011518007.1:c.553-2A>G (SLC1A1)	XP_011516309.1:n.553-2A>G
XM_011518008.1:c.493-2A>G (SLC1A1)	XP_011516310.1:n.493-2A>G
XM_011518008.3:c.493-2A>G (SLC1A1)	XP_011516310.1:n.493-2A>G
XM_011518009.1:c.424-2A>G (SLC1A1)	XP_011516311.1:n.424-2A>G
XM_011518009.3:c.424-2A>G (SLC1A1)	XP_011516311.1:n.424-2A>G
XM_011518010.1:c.343-2A>G (SLC1A1)	XP_011516312.1:n.343-2A>G
XM_017014882.2:c.*2-26477T>C (SPATA6L)	XP_016870371.1:n.*2-26477T>C
XM_017015042.1:c.553-2A>G (SLC1A1)	XP_016870531.1:n.553-2A>G
XM_017015043.1:c.484-2A>G (SLC1A1)	XP_016870532.1:n.484-2A>G
XR_001746335.2:n.1479-26477T>C (SPATA6L)