Canonical Allele Identifier: CA13130192

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4561374C>T , CM000671.2:g.4561374C>T	GRCh38
NC_000009.11:g.4561374C>T , CM000671.1:g.4561374C>T	GRCh37
NC_000009.10:g.4551374C>T	NCBI36
NG_017044.1:g.75948C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004170.6:c.233-75C>T (SLC1A1) MANE Select	NP_004161.4:n.233-75C>T
ENST00000262352.8:c.233-75C>T (SLC1A1) MANE Select	ENSP00000262352.3:n.233-75C>T
NM_004170.5:c.233-75C>T (SLC1A1)	NP_004161.4:n.233-75C>T
ENST00000262352.7:c.233-75C>T (SLC1A1)	ENSP00000262352.3:n.233-75C>T
ENST00000485616.5:c.*782-6986G>A (SPATA6L)	ENSP00000420003.1:n.*782-6986G>A
ENST00000490167.1:n.277-75C>T (SLC1A1)
XM_011518007.1:c.302-75C>T (SLC1A1)	XP_011516309.1:n.302-75C>T
XM_011518008.1:c.242-75C>T (SLC1A1)	XP_011516310.1:n.242-75C>T
XM_011518008.3:c.242-75C>T (SLC1A1)	XP_011516310.1:n.242-75C>T
XM_011518009.1:c.173-75C>T (SLC1A1)	XP_011516311.1:n.173-75C>T
XM_011518009.3:c.173-75C>T (SLC1A1)	XP_011516311.1:n.173-75C>T
XM_011518010.1:c.92-75C>T (SLC1A1)	XP_011516312.1:n.92-75C>T
XM_017014882.2:c.*2-20184G>A (SPATA6L)	XP_016870371.1:n.*2-20184G>A
XM_017015042.1:c.302-75C>T (SLC1A1)	XP_016870531.1:n.302-75C>T
XM_017015043.1:c.233-75C>T (SLC1A1)	XP_016870532.1:n.233-75C>T
XR_001746335.2:n.1479-20184G>A (SPATA6L)