Canonical Allele Identifier: CA2499222566

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 1146277
• ClinVar RCV Id: RCV001485442
• dbSNP Id: rs2139387275
• gnomAD v4: 14-22775545-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22775545G>A , CM000676.2:g.22775545G>A	GRCh38
NC_000014.8:g.23244754G>A , CM000676.1:g.23244754G>A	GRCh37
NC_000014.7:g.22314594G>A	NCBI36
NG_012851.2:g.59276C>T , LRG_695:g.59276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.999-5C>T	ENSP00000452551.2:n.999-5C>T
ENST00000698939.1:c.*65-5C>T	ENSP00000514047.1:n.*65-5C>T
ENST00000698940.1:n.61-5C>T
ENST00000397532.9:c.999-5C>T	ENSP00000380666.4:n.999-5C>T
ENST00000674313.1:c.999-5C>T MANE Select	ENSP00000501493.1:n.999-5C>T
ENST00000285850.11:c.999-5C>T	ENSP00000285850.7:n.999-5C>T
ENST00000397528.8:c.999-5C>T	ENSP00000380662.4:n.999-5C>T
ENST00000397529.6:c.999-5C>T	ENSP00000380663.2:n.999-5C>T
ENST00000397532.7:c.999-5C>T	ENSP00000380666.3:n.999-5C>T
ENST00000554061.5:n.670-5C>T
ENST00000554517.5:c.201-5C>T	ENSP00000452083.1:n.201-5C>T
ENST00000555678.1:n.255C>T
ENST00000555702.5:c.999-5C>T	ENSP00000451881.1:n.999-5C>T
ENST00000556287.5:c.895-5C>T	ENSP00000450715.1:n.895-5C>T
ENST00000556350.1:c.143-5C>T
NM_001126105.2:c.999-5C>T , LRG_695t1:c.999-5C>T	NP_001119577.1:n.999-5C>T
NM_001126106.2:c.999-5C>T , LRG_695t2:c.999-5C>T	NP_001119578.1:n.999-5C>T
NR_040448.1:n.1614-5C>T
XM_006720302.1:c.999-5C>T	XP_006720365.1:n.999-5C>T
XM_011537298.1:c.999-5C>T	XP_011535600.1:n.999-5C>T
XM_011537299.1:c.999-5C>T	XP_011535601.1:n.999-5C>T
XM_006720302.2:c.999-5C>T	XP_006720365.1:n.999-5C>T
XM_011537298.3:c.999-5C>T	XP_011535600.1:n.999-5C>T
NM_001126105.3:c.999-5C>T	NP_001119577.1:n.999-5C>T
NM_001126106.4:c.999-5C>T	NP_001119578.1:n.999-5C>T
NM_003982.4:c.999-5C>T MANE Select	NP_003973.3:n.999-5C>T