Canonical Allele Identifier: CA7296174
Gene: SEL1L HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.81504259T>C
GRCh37 chr14:g.81970603T>C
Revel Score:
ENST00000336735 (MANE Select) 0.018
ENST00000555824 0.018
gnomAD v2:
14:81970603 T / C
gnomAD v3:
14:81504259 T / C
gnomAD v4:
chr14-81504259-T-C
Joint Max Group AF 0.00033231 (NFE)
Genomes Max Group AF 0.00034217 (NFE)
Exomes Max Group AF 0.00032463 (NFE)
ClinVar RCV:
RCV004123012
ClinVar Variation:
2268069
dbSNP:
149494851
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81504259T>C , CM000676.2:g.81504259T>C GRCh38
NC_000014.8:g.81970603T>C , CM000676.1:g.81970603T>C GRCh37
NC_000014.7:g.81040356T>C NCBI36
NG_030335.1:g.34603A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336735.9:c.556A>G MANE Select ENSP00000337053.4:p.Met186Val
ENST00000336735.8:c.556A>G ENSP00000337053.4:p.Met186Val
ENST00000554744.1:n.130A>G
ENST00000555824.5:c.556A>G ENSP00000450709.1:p.Met186Val
NM_001244984.1:c.556A>G NP_001231913.1:p.Met186Val
NM_005065.5:c.556A>G NP_005056.3:p.Met186Val
XM_005267988.1:c.493A>G XP_005268045.1:p.Met165Val
XM_005267989.2:c.556A>G XP_005268046.1:p.Met186Val
XM_005267988.3:c.493A>G XP_005268045.1:p.Met165Val
XM_005267989.4:c.556A>G XP_005268046.1:p.Met186Val
NM_005065.6:c.556A>G MANE Select NP_005056.3:p.Met186Val
NM_001244984.2:c.556A>G NP_001231913.1:p.Met186Val
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