Canonical Allele Identifier: CA263823

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 56369
• ClinVar RCV Id: RCV000049782
• dbSNP Id: rs386833817
• ExAC: 14:23282108 C / T
• gnomAD v2: 14-23282108-C-T
• MyVariant Identifiers: chr14:g.23282108C>T (hg19) ; chr14:g.22812899C>T (hg38)
• PubMed: PMID:10631139 ; PMID:11544277

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22812899C>T , CM000676.2:g.22812899C>T	GRCh38
NC_000014.8:g.23282108C>T , CM000676.1:g.23282108C>T	GRCh37
NC_000014.7:g.22351948C>T	NCBI36
NG_012851.2:g.21922G>A , LRG_695:g.21922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.499+1G>A	ENSP00000452551.2:n.499+1G>A
ENST00000698939.1:c.499+1G>A	ENSP00000514047.1:n.499+1G>A
ENST00000397532.9:c.499+1G>A	ENSP00000380666.4:n.499+1G>A
ENST00000674313.1:c.499+1G>A MANE Select	ENSP00000501493.1:n.499+1G>A
ENST00000285850.11:c.499+1G>A	ENSP00000285850.7:n.499+1G>A
ENST00000397528.8:c.499+1G>A	ENSP00000380662.4:n.499+1G>A
ENST00000397529.6:c.499+1G>A	ENSP00000380663.2:n.499+1G>A
ENST00000397532.7:c.499+1G>A	ENSP00000380666.3:n.499+1G>A
ENST00000554517.5:c.-300+6739G>A	ENSP00000452083.1:n.-300+6739G>A
ENST00000555702.5:c.499+1G>A	ENSP00000451881.1:n.499+1G>A
ENST00000556287.5:c.499+1G>A	ENSP00000450715.1:n.499+1G>A
NM_001126105.2:c.499+1G>A , LRG_695t1:c.499+1G>A	NP_001119577.1:n.499+1G>A
NM_001126106.2:c.499+1G>A , LRG_695t2:c.499+1G>A	NP_001119578.1:n.499+1G>A
NR_040448.1:n.1114+1G>A
XM_006720302.1:c.499+1G>A	XP_006720365.1:n.499+1G>A
XM_011537298.1:c.499+1G>A	XP_011535600.1:n.499+1G>A
XM_011537299.1:c.499+1G>A	XP_011535601.1:n.499+1G>A
XM_006720302.2:c.499+1G>A	XP_006720365.1:n.499+1G>A
XM_011537298.3:c.499+1G>A	XP_011535600.1:n.499+1G>A
NM_001126105.3:c.499+1G>A	NP_001119577.1:n.499+1G>A
NM_001126106.4:c.499+1G>A	NP_001119578.1:n.499+1G>A
NM_003982.4:c.499+1G>A MANE Select	NP_003973.3:n.499+1G>A