Canonical Allele Identifier: CA127831
Gene: SLC3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.44312653T>A
GRCh37 chr2:g.44539792T>A
Revel Score:
ENST00000260649 (MANE Select) 0.951
ENST00000409387 0.951
ENST00000540334 0.951
ENST00000409741 0.951
ENST00000409229 0.951
ENST00000541289 0.951
ENST00000409380 0.951
ENST00000409294 0.951
ENST00000409740 0.951
gnomAD v2:
2:44539792 T / A
gnomAD v3:
2:44312653 T / A
gnomAD v4:
chr2-44312653-T-A
Joint Max Group AF 0.00026485 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0002697 (SAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000260649.11:c.1400T>A MANE Select ENSP00000260649.6:p.Met467Lys
ENST00000649044.1:c.*1411T>A ENSP00000497083.1:n.*1411T>A
ENST00000260649.10:c.1400T>A ENSP00000260649.6:p.Met467Lys
ENST00000409229.7:c.1400T>A ENSP00000386620.3:p.Met467Lys
ENST00000409294.5:c.260T>A ENSP00000386852.1:p.Met87Lys
ENST00000409380.5:c.566T>A ENSP00000386709.1:p.Met189Lys
ENST00000409387.5:c.1400T>A ENSP00000387308.1:p.Met467Lys
ENST00000409740.3:c.293T>A ENSP00000386677.3:p.Met98Lys
ENST00000409741.5:c.1400T>A ENSP00000386954.1:p.Met467Lys
ENST00000611973.4:c.1400T>A ENSP00000483618.1:p.Met467Lys
NM_000341.3:c.1400T>A NP_000332.2:p.Met467Lys
XM_011533047.1:c.1400T>A XP_011531349.1:p.Met467Lys
XM_011533047.3:c.1400T>A XP_011531349.1:p.Met467Lys
NM_000341.4:c.1400T>A MANE Select NP_000332.2:p.Met467Lys
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