Canonical Allele Identifier: CA7104476
Community Standard Title: NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)
Gene: SLC7A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22774483G>C , CM000676.2:g.22774483G>C GRCh38
NC_000014.8:g.23243692G>C , CM000676.1:g.23243692G>C GRCh37
NC_000014.7:g.22313532G>C NCBI36
NG_012851.2:g.60338C>G , LRG_695:g.60338C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003982.4:c.1116C>G MANE Select NP_003973.3:p.Tyr372Ter
ENST00000674313.1:c.1116C>G MANE Select ENSP00000501493.1:p.Tyr372Ter
NM_001126105.2:c.1116C>G , LRG_695t1:c.1116C>G NP_001119577.1:p.Tyr372Ter
NM_001126105.3:c.1116C>G NP_001119577.1:p.Tyr372Ter
NM_001126106.2:c.1116C>G , LRG_695t2:c.1116C>G NP_001119578.1:p.Tyr372Ter
NM_001126106.4:c.1116C>G NP_001119578.1:p.Tyr372Ter
NR_040448.1:n.1731C>G
ENST00000285850.11:c.1116C>G ENSP00000285850.7:p.Tyr372Ter
ENST00000397528.8:c.1116C>G ENSP00000380662.4:p.Tyr372Ter
ENST00000397529.6:c.1116C>G ENSP00000380663.2:p.Tyr372Ter
ENST00000397532.7:c.1116C>G ENSP00000380666.3:p.Tyr372Ter
ENST00000397532.9:c.1116C>G ENSP00000380666.4:p.Tyr372Ter
ENST00000554061.5:n.787C>G
ENST00000554517.5:c.318C>G ENSP00000452083.1:p.Tyr106Ter
ENST00000555678.1:n.377C>G
ENST00000555702.5:c.1116C>G ENSP00000451881.1:p.Tyr372Ter
ENST00000555911.2:c.1116C>G ENSP00000452551.2:p.Tyr372Ter
ENST00000556287.5:c.*79C>G ENSP00000450715.1:n.*79C>G
ENST00000556350.1:c.240-367C>G
ENST00000698939.1:c.*182C>G ENSP00000514047.1:n.*182C>G
ENST00000698940.1:n.178C>G
XM_006720302.1:c.1116C>G XP_006720365.1:p.Tyr372Ter
XM_006720302.2:c.1116C>G XP_006720365.1:p.Tyr372Ter
XM_011537298.1:c.1116C>G XP_011535600.1:p.Tyr372Ter
XM_011537298.3:c.1116C>G XP_011535600.1:p.Tyr372Ter
XM_011537299.1:c.1116C>G XP_011535601.1:p.Tyr372Ter