Canonical Allele Identifier: CA263752
Gene: SLC7A7 HGNC NCBI

Linked Data

ClinVar Variation Id: 56345
ClinVar RCV Id: RCV000049758
dbSNP Id: rs386833793

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22813241G>A , CM000676.2:g.22813241G>A GRCh38
NC_000014.8:g.23282450G>A , CM000676.1:g.23282450G>A GRCh37
NC_000014.7:g.22352290G>A NCBI36
NG_012851.2:g.21580C>T , LRG_695:g.21580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555911.2:c.158C>T ENSP00000452551.2:p.Ser53Leu
ENST00000698939.1:c.158C>T ENSP00000514047.1:p.Ser53Leu
ENST00000397532.9:c.158C>T ENSP00000380666.4:p.Ser53Leu
ENST00000674313.1:c.158C>T MANE Select ENSP00000501493.1:p.Ser53Leu
ENST00000285850.11:c.158C>T ENSP00000285850.7:p.Ser53Leu
ENST00000397528.8:c.158C>T ENSP00000380662.4:p.Ser53Leu
ENST00000397529.6:c.158C>T ENSP00000380663.2:p.Ser53Leu
ENST00000397532.7:c.158C>T ENSP00000380666.3:p.Ser53Leu
ENST00000488800.5:c.158C>T ENSP00000421554.1:p.Ser53Leu
ENST00000554517.5:c.-300+6397C>T ENSP00000452083.1:n.-300+6397C>T
ENST00000554758.1:c.158C>T ENSP00000450671.1:p.Ser53Leu
ENST00000555251.1:c.158C>T ENSP00000451983.1:p.Ser53Leu
ENST00000555702.5:c.158C>T ENSP00000451881.1:p.Ser53Leu
ENST00000555911.1:c.158C>T ENSP00000452551.1:p.Ser53Leu
ENST00000556287.5:c.158C>T ENSP00000450715.1:p.Ser53Leu
ENST00000557129.5:c.158C>T ENSP00000450729.1:p.Ser53Leu
ENST00000557629.5:c.158C>T ENSP00000450495.1:p.Ser53Leu
NM_001126105.2:c.158C>T , LRG_695t1:c.158C>T NP_001119577.1:p.Ser53Leu
NM_001126106.2:c.158C>T , LRG_695t2:c.158C>T NP_001119578.1:p.Ser53Leu
NR_040448.1:n.773C>T
XM_006720302.1:c.158C>T XP_006720365.1:p.Ser53Leu
XM_011537298.1:c.158C>T XP_011535600.1:p.Ser53Leu
XM_011537299.1:c.158C>T XP_011535601.1:p.Ser53Leu
XM_006720302.2:c.158C>T XP_006720365.1:p.Ser53Leu
XM_011537298.3:c.158C>T XP_011535600.1:p.Ser53Leu
NM_001126105.3:c.158C>T NP_001119577.1:p.Ser53Leu
NM_001126106.4:c.158C>T NP_001119578.1:p.Ser53Leu
NM_003982.4:c.158C>T MANE Select NP_003973.3:p.Ser53Leu