Canonical Allele Identifier: CA388922405

Gene: SLC7A7

Linked Data

• dbSNP Id: rs1407131153
• gnomAD v4: 14-22813140-C-G
• MyVariant Identifiers: chr14:g.23282349C>G (hg19) ; chr14:g.22813140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22813140C>G , CM000676.2:g.22813140C>G	GRCh38
NC_000014.8:g.23282349C>G , CM000676.1:g.23282349C>G	GRCh37
NC_000014.7:g.22352189C>G	NCBI36
NG_012851.2:g.21681G>C , LRG_695:g.21681G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.259G>C	ENSP00000452551.2:p.Ala87Pro
ENST00000698939.1:c.259G>C	ENSP00000514047.1:p.Ala87Pro
ENST00000397532.9:c.259G>C	ENSP00000380666.4:p.Ala87Pro
ENST00000674313.1:c.259G>C MANE Select	ENSP00000501493.1:p.Ala87Pro
ENST00000285850.11:c.259G>C	ENSP00000285850.7:p.Ala87Pro
ENST00000397528.8:c.259G>C	ENSP00000380662.4:p.Ala87Pro
ENST00000397529.6:c.259G>C	ENSP00000380663.2:p.Ala87Pro
ENST00000397532.7:c.259G>C	ENSP00000380666.3:p.Ala87Pro
ENST00000488800.5:c.259G>C	ENSP00000421554.1:p.Ala87Pro
ENST00000554517.5:c.-300+6498G>C	ENSP00000452083.1:n.-300+6498G>C
ENST00000554758.1:c.259G>C	ENSP00000450671.1:p.Ala87Pro
ENST00000555251.1:c.259G>C	ENSP00000451983.1:p.Ala87Pro
ENST00000555702.5:c.259G>C	ENSP00000451881.1:p.Ala87Pro
ENST00000555911.1:c.259G>C	ENSP00000452551.1:p.Ala87Pro
ENST00000556287.5:c.259G>C	ENSP00000450715.1:p.Ala87Pro
ENST00000557129.5:c.259G>C	ENSP00000450729.1:p.Ala87Pro
ENST00000557629.5:c.259G>C	ENSP00000450495.1:p.Ala87Pro
NM_001126105.2:c.259G>C , LRG_695t1:c.259G>C	NP_001119577.1:p.Ala87Pro
NM_001126106.2:c.259G>C , LRG_695t2:c.259G>C	NP_001119578.1:p.Ala87Pro
NR_040448.1:n.874G>C
XM_006720302.1:c.259G>C	XP_006720365.1:p.Ala87Pro
XM_011537298.1:c.259G>C	XP_011535600.1:p.Ala87Pro
XM_011537299.1:c.259G>C	XP_011535601.1:p.Ala87Pro
XM_006720302.2:c.259G>C	XP_006720365.1:p.Ala87Pro
XM_011537298.3:c.259G>C	XP_011535600.1:p.Ala87Pro
NM_001126105.3:c.259G>C	NP_001119577.1:p.Ala87Pro
NM_001126106.4:c.259G>C	NP_001119578.1:p.Ala87Pro
NM_003982.4:c.259G>C MANE Select	NP_003973.3:p.Ala87Pro