Canonical Allele Identifier: CA7104670
Community Standard Title: NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
Gene: SLC7A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22780002T>G , CM000676.2:g.22780002T>G GRCh38
NC_000014.8:g.23249211T>G , CM000676.1:g.23249211T>G GRCh37
NC_000014.7:g.22319051T>G NCBI36
NG_012851.2:g.54819A>C , LRG_695:g.54819A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003982.4:c.549A>C MANE Select NP_003973.3:p.Val183=
ENST00000674313.1:c.549A>C MANE Select ENSP00000501493.1:p.Val183=
NM_001126105.2:c.549A>C , LRG_695t1:c.549A>C NP_001119577.1:p.Val183=
NM_001126105.3:c.549A>C NP_001119577.1:p.Val183=
NM_001126106.2:c.549A>C , LRG_695t2:c.549A>C NP_001119578.1:p.Val183=
NM_001126106.4:c.549A>C NP_001119578.1:p.Val183=
NR_040448.1:n.1164A>C
ENST00000285850.11:c.549A>C ENSP00000285850.7:p.Val183=
ENST00000397528.8:c.549A>C ENSP00000380662.4:p.Val183=
ENST00000397529.6:c.549A>C ENSP00000380663.2:p.Val183=
ENST00000397532.7:c.549A>C ENSP00000380666.3:p.Val183=
ENST00000397532.9:c.549A>C ENSP00000380666.4:p.Val183=
ENST00000554061.5:n.220A>C
ENST00000554517.5:c.-250A>C ENSP00000452083.1:n.-250A>C
ENST00000555702.5:c.549A>C ENSP00000451881.1:p.Val183=
ENST00000555911.2:c.549A>C ENSP00000452551.2:p.Val183=
ENST00000556287.5:c.549A>C ENSP00000450715.1:p.Val183=
ENST00000698939.1:c.549A>C ENSP00000514047.1:p.Val183=
XM_006720302.1:c.549A>C XP_006720365.1:p.Val183=
XM_006720302.2:c.549A>C XP_006720365.1:p.Val183=
XM_011537298.1:c.549A>C XP_011535600.1:p.Val183=
XM_011537298.3:c.549A>C XP_011535600.1:p.Val183=
XM_011537299.1:c.549A>C XP_011535601.1:p.Val183=