Canonical Allele Identifier: CA253804
Gene: SLC7A7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6209
ClinVar RCV Id: RCV000006587
dbSNP Id: rs72552272

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22775538A>C , CM000676.2:g.22775538A>C GRCh38
NC_000014.8:g.23244747A>C , CM000676.1:g.23244747A>C GRCh37
NC_000014.7:g.22314587A>C NCBI36
NG_012851.2:g.59283T>G , LRG_695:g.59283T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555911.2:c.1001T>G ENSP00000452551.2:p.Leu334Arg
ENST00000698939.1:c.*67T>G ENSP00000514047.1:n.*67T>G
ENST00000698940.1:n.63T>G
ENST00000397532.9:c.1001T>G ENSP00000380666.4:p.Leu334Arg
ENST00000674313.1:c.1001T>G MANE Select ENSP00000501493.1:p.Leu334Arg
ENST00000285850.11:c.1001T>G ENSP00000285850.7:p.Leu334Arg
ENST00000397528.8:c.1001T>G ENSP00000380662.4:p.Leu334Arg
ENST00000397529.6:c.1001T>G ENSP00000380663.2:p.Leu334Arg
ENST00000397532.7:c.1001T>G ENSP00000380666.3:p.Leu334Arg
ENST00000554061.5:n.672T>G
ENST00000554517.5:c.203T>G ENSP00000452083.1:p.Leu68Arg
ENST00000555678.1:n.262T>G
ENST00000555702.5:c.1001T>G ENSP00000451881.1:p.Leu334Arg
ENST00000556287.5:c.897T>G ENSP00000450715.1:p.Ala299=
ENST00000556350.1:c.145T>G
NM_001126105.2:c.1001T>G , LRG_695t1:c.1001T>G NP_001119577.1:p.Leu334Arg
NM_001126106.2:c.1001T>G , LRG_695t2:c.1001T>G NP_001119578.1:p.Leu334Arg
NR_040448.1:n.1616T>G
XM_006720302.1:c.1001T>G XP_006720365.1:p.Leu334Arg
XM_011537298.1:c.1001T>G XP_011535600.1:p.Leu334Arg
XM_011537299.1:c.1001T>G XP_011535601.1:p.Leu334Arg
XM_006720302.2:c.1001T>G XP_006720365.1:p.Leu334Arg
XM_011537298.3:c.1001T>G XP_011535600.1:p.Leu334Arg
NM_001126105.3:c.1001T>G NP_001119577.1:p.Leu334Arg
NM_001126106.4:c.1001T>G NP_001119578.1:p.Leu334Arg
NM_003982.4:c.1001T>G MANE Select NP_003973.3:p.Leu334Arg