Canonical Allele Identifier: CA127830

Gene: SLC3A1

Linked Data

• ClinVar Variation Id: 18115
• ClinVar RCV Id: RCV000413736 ; RCV002251914 ; RCV004018645 ; RCV000019743
• 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

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