Canonical Allele Identifier: CA388920992
Community Standard Title: NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)
Gene: SLC7A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22773685A>T , CM000676.2:g.22773685A>T GRCh38
NC_000014.8:g.23242894A>T , CM000676.1:g.23242894A>T GRCh37
NC_000014.7:g.22312734A>T NCBI36
NG_012851.2:g.61136T>A , LRG_695:g.61136T>A
NG_051068.1:g.12164A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003982.4:c.1461T>A MANE Select NP_003973.3:p.Cys487Ter
ENST00000674313.1:c.1461T>A MANE Select ENSP00000501493.1:p.Cys487Ter
NM_001126105.2:c.1461T>A , LRG_695t1:c.1461T>A NP_001119577.1:p.Cys487Ter
NM_001126105.3:c.1461T>A NP_001119577.1:p.Cys487Ter
NM_001126106.2:c.1461T>A , LRG_695t2:c.1461T>A NP_001119578.1:p.Cys487Ter
NM_001126106.4:c.1461T>A NP_001119578.1:p.Cys487Ter
NR_040448.1:n.2076T>A
ENST00000285850.11:c.1461T>A ENSP00000285850.7:p.Cys487Ter
ENST00000397528.8:c.1461T>A ENSP00000380662.4:p.Cys487Ter
ENST00000397529.6:c.1461T>A ENSP00000380663.2:p.Cys487Ter
ENST00000397532.7:c.1461T>A ENSP00000380666.3:p.Cys487Ter
ENST00000397532.9:c.1461T>A ENSP00000380666.4:p.Cys487Ter
ENST00000554061.5:n.1132T>A
ENST00000554517.5:c.663T>A ENSP00000452083.1:p.Cys221Ter
ENST00000555678.1:n.722T>A
ENST00000555702.5:c.1461T>A ENSP00000451881.1:p.Cys487Ter
ENST00000555911.2:c.1461T>A ENSP00000452551.2:p.Cys487Ter
ENST00000556287.5:c.*424T>A ENSP00000450715.1:n.*424T>A
ENST00000556350.1:c.455T>A
ENST00000698939.1:c.*527T>A ENSP00000514047.1:n.*527T>A
XM_006720302.1:c.1461T>A XP_006720365.1:p.Cys487Ter
XM_006720302.2:c.1461T>A XP_006720365.1:p.Cys487Ter
XM_011537298.1:c.1461T>A XP_011535600.1:p.Cys487Ter
XM_011537298.3:c.1461T>A XP_011535600.1:p.Cys487Ter
XM_011537299.1:c.1461T>A XP_011535601.1:p.Cys487Ter