Canonical Allele Identifier: CA6769239
Gene: SELPLG HGNC NCBI
COSMIC:
COSM4985143 (not active)
COSM4985144 (not active)
MyVariant.info:
GRCh38 chr12:g.108623488T>C
GRCh37 chr12:g.109017264T>C
Revel Score:
ENST00000388962 0.031
ENST00000550948 (MANE Select) 0.031
ENST00000228463 0.031
gnomAD v2:
12:109017264 T / C
gnomAD v3:
12:108623488 T / C
gnomAD v4:
chr12-108623488-T-C
Joint Max Group AF 0.27265202 (AFR)
Genomes Max Group AF 0.26879323 (AFR)
Exomes Max Group AF 0.27453681 (AFR)
dbSNP:
7300972
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108623488T>C , CM000674.2:g.108623488T>C GRCh38
NC_000012.11:g.109017264T>C , CM000674.1:g.109017264T>C GRCh37
NC_000012.10:g.107541393T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000550948.2:c.820A>G MANE Select ENSP00000447752.1:p.Met274Val
ENST00000228463.6:c.868A>G ENSP00000228463.6:p.Met290Val
ENST00000388962.4:c.790A>G ENSP00000373614.3:p.Met264Val
ENST00000550948.1:c.820A>G ENSP00000447752.1:p.Met274Val
NM_001206609.1:c.868A>G NP_001193538.1:p.Met290Val
NM_003006.4:c.820A>G MANE Select NP_002997.2:p.Met274Val
XM_005269076.2:c.790A>G XP_005269133.1:p.Met264Val
NM_001206609.2:c.868A>G NP_001193538.1:p.Met290Val
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