Canonical Allele Identifier: CA388924415

Gene: SLC7A7

Linked Data

• MyVariant Identifiers: chr14:g.23249242T>G (hg19) ; chr14:g.22780033T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22780033T>G , CM000676.2:g.22780033T>G	GRCh38
NC_000014.8:g.23249242T>G , CM000676.1:g.23249242T>G	GRCh37
NC_000014.7:g.22319082T>G	NCBI36
NG_012851.2:g.54788A>C , LRG_695:g.54788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.518A>C	ENSP00000452551.2:p.Asn173Thr
ENST00000698939.1:c.518A>C	ENSP00000514047.1:p.Asn173Thr
ENST00000397532.9:c.518A>C	ENSP00000380666.4:p.Asn173Thr
ENST00000674313.1:c.518A>C MANE Select	ENSP00000501493.1:p.Asn173Thr
ENST00000285850.11:c.518A>C	ENSP00000285850.7:p.Asn173Thr
ENST00000397528.8:c.518A>C	ENSP00000380662.4:p.Asn173Thr
ENST00000397529.6:c.518A>C	ENSP00000380663.2:p.Asn173Thr
ENST00000397532.7:c.518A>C	ENSP00000380666.3:p.Asn173Thr
ENST00000554061.5:n.189A>C
ENST00000554517.5:c.-281A>C	ENSP00000452083.1:n.-281A>C
ENST00000555702.5:c.518A>C	ENSP00000451881.1:p.Asn173Thr
ENST00000556287.5:c.518A>C	ENSP00000450715.1:p.Asn173Thr
NM_001126105.2:c.518A>C , LRG_695t1:c.518A>C	NP_001119577.1:p.Asn173Thr
NM_001126106.2:c.518A>C , LRG_695t2:c.518A>C	NP_001119578.1:p.Asn173Thr
NR_040448.1:n.1133A>C
XM_006720302.1:c.518A>C	XP_006720365.1:p.Asn173Thr
XM_011537298.1:c.518A>C	XP_011535600.1:p.Asn173Thr
XM_011537299.1:c.518A>C	XP_011535601.1:p.Asn173Thr
XM_006720302.2:c.518A>C	XP_006720365.1:p.Asn173Thr
XM_011537298.3:c.518A>C	XP_011535600.1:p.Asn173Thr
NM_001126105.3:c.518A>C	NP_001119577.1:p.Asn173Thr
NM_001126106.4:c.518A>C	NP_001119578.1:p.Asn173Thr
NM_003982.4:c.518A>C MANE Select	NP_003973.3:p.Asn173Thr