Canonical Allele Identifier: CA728106
Gene: LAPTM5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.30741647A>G
GRCh37 chr1:g.31214494A>G
Revel Score:
ENST00000294507 (MANE Select) 0.191
ENST00000424259 0.191
gnomAD v2:
1:31214494 A / G
gnomAD v3:
1:30741647 A / G
gnomAD v4:
chr1-30741647-A-G
Joint Max Group AF 0.000151 (NFE)
Genomes Max Group AF 0.0000791 (NFE)
Exomes Max Group AF 0.00015135 (NFE)
ClinVar RCV:
RCV004168791
ClinVar Variation:
2322885
dbSNP:
777435891
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.30741647A>G , CM000663.2:g.30741647A>G GRCh38
NC_000001.10:g.31214494A>G , CM000663.1:g.31214494A>G GRCh37
NC_000001.9:g.30987081A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294507.4:c.251T>C MANE Select ENSP00000294507.3:p.Val84Ala
ENST00000294507.3:c.251T>C ENSP00000294507.3:p.Val84Ala
ENST00000464569.1:n.476T>C
NM_006762.2:c.251T>C NP_006753.1:p.Val84Ala
XM_011542098.1:c.88-1710T>C XP_011540400.1:n.88-1710T>C
XM_011542098.2:c.88-1710T>C XP_011540400.1:n.88-1710T>C
NM_006762.3:c.251T>C MANE Select NP_006753.1:p.Val84Ala
Search 100 bp 5'
Search 100 bp 3'