Canonical Allele Identifier: CA736849417

Gene: SLC1A7

Linked Data

• dbSNP Id: rs1285290934
• gnomAD v3: 1-53119437-C-T
• gnomAD v4: 1-53119437-C-T
• MyVariant Identifiers: chr1:g.53585109C>T (hg19) ; chr1:g.53119437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53119437C>T , CM000663.2:g.53119437C>T	GRCh38
NC_000001.10:g.53585109C>T , CM000663.1:g.53585109C>T	GRCh37
NC_000001.9:g.53357697C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371494.9:c.216-4464G>A MANE Select	ENSP00000360549.5:n.216-4464G>A
ENST00000611397.5:c.216-13663G>A	ENSP00000484987.1:n.216-13663G>A
ENST00000620347.5:c.216-4464G>A	ENSP00000478639.1:n.216-4464G>A
ENST00000649098.1:c.216-4464G>A	ENSP00000497247.1:n.216-4464G>A
ENST00000371491.4:c.216-4464G>A	ENSP00000360546.4:n.216-4464G>A
ENST00000371494.8:c.216-4464G>A	ENSP00000360549.4:n.216-4464G>A
ENST00000611397.4:c.216-13663G>A	ENSP00000484987.1:n.216-13663G>A
ENST00000620288.4:c.216-4464G>A	ENSP00000481341.1:n.216-4464G>A
ENST00000620347.4:c.216-4464G>A	ENSP00000478639.1:n.216-4464G>A
NM_001287595.1:c.216-4464G>A	NP_001274524.1:n.216-4464G>A
NM_001287596.1:c.216-4464G>A	NP_001274525.1:n.216-4464G>A
NM_001287597.1:c.216-13663G>A	NP_001274526.1:n.216-13663G>A
NM_006671.5:c.216-4464G>A	NP_006662.3:n.216-4464G>A
NR_109858.1:n.399-4464G>A
NM_001287595.2:c.216-4464G>A	NP_001274524.1:n.216-4464G>A
NM_001287596.2:c.216-4464G>A	NP_001274525.1:n.216-4464G>A
NM_001287597.2:c.216-13663G>A	NP_001274526.1:n.216-13663G>A
NM_006671.6:c.216-4464G>A MANE Select	NP_006662.3:n.216-4464G>A
NR_109858.2:n.405-4464G>A