Canonical Allele Identifier: CA257723565
Gene: SLC7A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22773881G>T , CM000676.2:g.22773881G>T GRCh38
NC_000014.8:g.23243090G>T , CM000676.1:g.23243090G>T GRCh37
NC_000014.7:g.22312930G>T NCBI36
NG_012851.2:g.60940C>A , LRG_695:g.60940C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555911.2:c.1429+52C>A ENSP00000452551.2:n.1429+52C>A
ENST00000698939.1:c.*495+52C>A ENSP00000514047.1:n.*495+52C>A
ENST00000397532.9:c.1429+52C>A ENSP00000380666.4:n.1429+52C>A
ENST00000674313.1:c.1429+52C>A MANE Select ENSP00000501493.1:n.1429+52C>A
ENST00000285850.11:c.1429+52C>A ENSP00000285850.7:n.1429+52C>A
ENST00000397528.8:c.1429+52C>A ENSP00000380662.4:n.1429+52C>A
ENST00000397529.6:c.1429+52C>A ENSP00000380663.2:n.1429+52C>A
ENST00000397532.7:c.1429+52C>A ENSP00000380666.3:n.1429+52C>A
ENST00000554061.5:n.1100+52C>A
ENST00000554517.5:c.631+52C>A ENSP00000452083.1:n.631+52C>A
ENST00000555678.1:n.690+52C>A
ENST00000555702.5:c.1429+52C>A ENSP00000451881.1:n.1429+52C>A
ENST00000556287.5:c.*392+52C>A ENSP00000450715.1:n.*392+52C>A
ENST00000556350.1:c.423+52C>A
NM_001126105.2:c.1429+52C>A , LRG_695t1:c.1429+52C>A NP_001119577.1:n.1429+52C>A
NM_001126106.2:c.1429+52C>A , LRG_695t2:c.1429+52C>A NP_001119578.1:n.1429+52C>A
NR_040448.1:n.2044+52C>A
XM_006720302.1:c.1429+52C>A XP_006720365.1:n.1429+52C>A
XM_011537298.1:c.1429+52C>A XP_011535600.1:n.1429+52C>A
XM_011537299.1:c.1429+52C>A XP_011535601.1:n.1429+52C>A
XM_006720302.2:c.1429+52C>A XP_006720365.1:n.1429+52C>A
XM_011537298.3:c.1429+52C>A XP_011535600.1:n.1429+52C>A
NM_001126105.3:c.1429+52C>A NP_001119577.1:n.1429+52C>A
NM_001126106.4:c.1429+52C>A NP_001119578.1:n.1429+52C>A
NM_003982.4:c.1429+52C>A MANE Select NP_003973.3:n.1429+52C>A