Canonical Allele Identifier: CA865002430

Gene: SLC1A1 SPATA6L

Linked Data

• dbSNP Id: rs1279942870
• MyVariant Identifiers: chr9:g.4567312C>A (hg19) ; chr9:g.4567312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4567312C>A , CM000671.2:g.4567312C>A	GRCh38
NC_000009.11:g.4567312C>A , CM000671.1:g.4567312C>A	GRCh37
NC_000009.10:g.4557312C>A	NCBI36
NG_017044.1:g.81886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262352.8:c.484-357C>A (SLC1A1) MANE Select	ENSP00000262352.3:n.484-357C>A
ENST00000262352.7:c.484-357C>A (SLC1A1)	ENSP00000262352.3:n.484-357C>A
ENST00000485616.5:c.*782-12924G>T (SPATA6L)	ENSP00000420003.1:n.*782-12924G>T
NM_004170.5:c.484-357C>A (SLC1A1)	NP_004161.4:n.484-357C>A
XM_011518007.1:c.553-357C>A (SLC1A1)	XP_011516309.1:n.553-357C>A
XM_011518008.1:c.493-357C>A (SLC1A1)	XP_011516310.1:n.493-357C>A
XM_011518009.1:c.424-357C>A (SLC1A1)	XP_011516311.1:n.424-357C>A
XM_011518010.1:c.343-357C>A (SLC1A1)	XP_011516312.1:n.343-357C>A
XM_011518008.3:c.493-357C>A (SLC1A1)	XP_011516310.1:n.493-357C>A
XM_011518009.3:c.424-357C>A (SLC1A1)	XP_011516311.1:n.424-357C>A
XM_017014882.2:c.*2-26122G>T (SPATA6L)	XP_016870371.1:n.*2-26122G>T
XM_017015042.1:c.553-357C>A (SLC1A1)	XP_016870531.1:n.553-357C>A
XM_017015043.1:c.484-357C>A (SLC1A1)	XP_016870532.1:n.484-357C>A
XR_001746335.2:n.1479-26122G>T (SPATA6L)
NM_004170.6:c.484-357C>A (SLC1A1) MANE Select	NP_004161.4:n.484-357C>A