Canonical Allele Identifier: CA388923516

Gene: SLC7A7

Linked Data

• MyVariant Identifiers: chr14:g.23245426A>C (hg19) ; chr14:g.22776217A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22776217A>C , CM000676.2:g.22776217A>C	GRCh38
NC_000014.8:g.23245426A>C , CM000676.1:g.23245426A>C	GRCh37
NC_000014.7:g.22315266A>C	NCBI36
NG_012851.2:g.58604T>G , LRG_695:g.58604T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.872T>G	ENSP00000452551.2:p.Leu291Trp
ENST00000698939.1:c.771-281T>G	ENSP00000514047.1:n.771-281T>G
ENST00000397532.9:c.872T>G	ENSP00000380666.4:p.Leu291Trp
ENST00000674313.1:c.872T>G MANE Select	ENSP00000501493.1:p.Leu291Trp
ENST00000285850.11:c.872T>G	ENSP00000285850.7:p.Leu291Trp
ENST00000397528.8:c.872T>G	ENSP00000380662.4:p.Leu291Trp
ENST00000397529.6:c.872T>G	ENSP00000380663.2:p.Leu291Trp
ENST00000397532.7:c.872T>G	ENSP00000380666.3:p.Leu291Trp
ENST00000554061.5:n.543T>G
ENST00000554517.5:c.74T>G	ENSP00000452083.1:p.Leu25Trp
ENST00000555702.5:c.872T>G	ENSP00000451881.1:p.Leu291Trp
ENST00000556287.5:c.872T>G	ENSP00000450715.1:p.Leu291Trp
ENST00000556350.1:c.16T>G
NM_001126105.2:c.872T>G , LRG_695t1:c.872T>G	NP_001119577.1:p.Leu291Trp
NM_001126106.2:c.872T>G , LRG_695t2:c.872T>G	NP_001119578.1:p.Leu291Trp
NR_040448.1:n.1487T>G
XM_006720302.1:c.872T>G	XP_006720365.1:p.Leu291Trp
XM_011537298.1:c.872T>G	XP_011535600.1:p.Leu291Trp
XM_011537299.1:c.872T>G	XP_011535601.1:p.Leu291Trp
XM_006720302.2:c.872T>G	XP_006720365.1:p.Leu291Trp
XM_011537298.3:c.872T>G	XP_011535600.1:p.Leu291Trp
NM_001126105.3:c.872T>G	NP_001119577.1:p.Leu291Trp
NM_001126106.4:c.872T>G	NP_001119578.1:p.Leu291Trp
NM_003982.4:c.872T>G MANE Select	NP_003973.3:p.Leu291Trp