Canonical Allele Identifier: CA372818551

Gene: SLC1A1 SPATA6L

Linked Data

• MyVariant Identifiers: chr9:g.4576681G>C (hg19) ; chr9:g.4576681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576681G>C , CM000671.2:g.4576681G>C	GRCh38
NC_000009.11:g.4576681G>C , CM000671.1:g.4576681G>C	GRCh37
NC_000009.10:g.4566681G>C	NCBI36
NG_017044.1:g.91255G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1111G>C (SLC1A1) MANE Select	ENSP00000262352.3:p.Ala371Pro
ENST00000262352.7:c.1111G>C (SLC1A1)	ENSP00000262352.3:p.Ala371Pro
ENST00000422398.1:c.398G>C (SLC1A1)
ENST00000485616.5:c.*782-22293C>G (SPATA6L)	ENSP00000420003.1:n.*782-22293C>G
NM_004170.5:c.1111G>C (SLC1A1)	NP_004161.4:p.Ala371Pro
XM_011518007.1:c.1180G>C (SLC1A1)	XP_011516309.1:p.Ala394Pro
XM_011518008.1:c.1120G>C (SLC1A1)	XP_011516310.1:p.Ala374Pro
XM_011518009.1:c.1051G>C (SLC1A1)	XP_011516311.1:p.Ala351Pro
XM_011518010.1:c.970G>C (SLC1A1)	XP_011516312.1:p.Ala324Pro
XM_011518008.3:c.1120G>C (SLC1A1)	XP_011516310.1:p.Ala374Pro
XM_011518009.3:c.1051G>C (SLC1A1)	XP_011516311.1:p.Ala351Pro
XM_017014882.2:c.*1+27498C>G (SPATA6L)	XP_016870371.1:n.*1+27498C>G
XM_017015042.1:c.1072G>C (SLC1A1)	XP_016870531.1:p.Ala358Pro
XM_017015043.1:c.1003G>C (SLC1A1)	XP_016870532.1:p.Ala335Pro
XR_001746335.2:n.1478+23972C>G (SPATA6L)
NM_004170.6:c.1111G>C (SLC1A1) MANE Select	NP_004161.4:p.Ala371Pro