Canonical Allele Identifier: CA388924254
Gene: SLC7A7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22779959C>A , CM000676.2:g.22779959C>A GRCh38
NC_000014.8:g.23249168C>A , CM000676.1:g.23249168C>A GRCh37
NC_000014.7:g.22319008C>A NCBI36
NG_012851.2:g.54862G>T , LRG_695:g.54862G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555911.2:c.592G>T ENSP00000452551.2:p.Val198Phe
ENST00000698939.1:c.592G>T ENSP00000514047.1:p.Val198Phe
ENST00000397532.9:c.592G>T ENSP00000380666.4:p.Val198Phe
ENST00000674313.1:c.592G>T MANE Select ENSP00000501493.1:p.Val198Phe
ENST00000285850.11:c.592G>T ENSP00000285850.7:p.Val198Phe
ENST00000397528.8:c.592G>T ENSP00000380662.4:p.Val198Phe
ENST00000397529.6:c.592G>T ENSP00000380663.2:p.Val198Phe
ENST00000397532.7:c.592G>T ENSP00000380666.3:p.Val198Phe
ENST00000554061.5:n.263G>T
ENST00000554517.5:c.-207G>T ENSP00000452083.1:n.-207G>T
ENST00000555702.5:c.592G>T ENSP00000451881.1:p.Val198Phe
ENST00000556287.5:c.592G>T ENSP00000450715.1:p.Val198Phe
NM_001126105.2:c.592G>T , LRG_695t1:c.592G>T NP_001119577.1:p.Val198Phe
NM_001126106.2:c.592G>T , LRG_695t2:c.592G>T NP_001119578.1:p.Val198Phe
NR_040448.1:n.1207G>T
XM_006720302.1:c.592G>T XP_006720365.1:p.Val198Phe
XM_011537298.1:c.592G>T XP_011535600.1:p.Val198Phe
XM_011537299.1:c.592G>T XP_011535601.1:p.Val198Phe
XM_006720302.2:c.592G>T XP_006720365.1:p.Val198Phe
XM_011537298.3:c.592G>T XP_011535600.1:p.Val198Phe
NM_001126105.3:c.592G>T NP_001119577.1:p.Val198Phe
NM_001126106.4:c.592G>T NP_001119578.1:p.Val198Phe
NM_003982.4:c.592G>T MANE Select NP_003973.3:p.Val198Phe