Canonical Allele Identifier: CA127830
Gene: SLC3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18115
ClinVar RCV Id: RCV000019743 RCV000413736 RCV002251914
dbSNP Id: rs121912691
ExAC: 2:44539792 T / C
gnomAD v2: 2-44539792-T-C
gnomAD v3: 2-44312653-T-C
gnomAD v4: 2-44312653-T-C
MyVariant Identifiers: chr2:g.44539792T>C (hg19) chr2:g.44312653T>C (hg38)
PubMed: PMID:8054986 PMID:8792820 PMID:9083097 PMID:11748844 PMID:12820697 PMID:15635077 PMID:18332091 PMID:21677404 PMID:25296721 PMID:28646536
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44312653T>C , CM000664.2:g.44312653T>C GRCh38
NC_000002.11:g.44539792T>C , CM000664.1:g.44539792T>C GRCh37
NC_000002.10:g.44393296T>C NCBI36
NG_008233.1:g.42196T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260649.11:c.1400T>C MANE Select ENSP00000260649.6:p.Met467Thr
ENST00000649044.1:c.*1411T>C ENSP00000497083.1:n.*1411T>C
ENST00000260649.10:c.1400T>C ENSP00000260649.6:p.Met467Thr
ENST00000409229.7:c.1400T>C ENSP00000386620.3:p.Met467Thr
ENST00000409294.5:c.260T>C ENSP00000386852.1:p.Met87Thr
ENST00000409380.5:c.566T>C ENSP00000386709.1:p.Met189Thr
ENST00000409387.5:c.1400T>C ENSP00000387308.1:p.Met467Thr
ENST00000409740.3:c.293T>C ENSP00000386677.3:p.Met98Thr
ENST00000409741.5:c.1400T>C ENSP00000386954.1:p.Met467Thr
ENST00000611973.4:c.1400T>C ENSP00000483618.1:p.Met467Thr
NM_000341.3:c.1400T>C NP_000332.2:p.Met467Thr
XM_011533047.1:c.1400T>C XP_011531349.1:p.Met467Thr
XM_011533047.3:c.1400T>C XP_011531349.1:p.Met467Thr
NM_000341.4:c.1400T>C MANE Select NP_000332.2:p.Met467Thr
Search 100 bp 5'
Search 100 bp 3'