Canonical Allele Identifier: CA6769397
Gene: SELPLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3055988
ClinVar RCV Id: RCV003976599
dbSNP Id: rs2228315
ExAC: 12:109017898 C / T
gnomAD v2: 12-109017898-C-T
gnomAD v3: 12-108624122-C-T
gnomAD v4: 12-108624122-C-T
MyVariant Identifiers: chr12:g.109017898C>T (hg19) chr12:g.108624122C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108624122C>T , CM000674.2:g.108624122C>T GRCh38
NC_000012.11:g.109017898C>T , CM000674.1:g.109017898C>T GRCh37
NC_000012.10:g.107542027C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000550948.2:c.186G>A MANE Select ENSP00000447752.1:p.Met62Ile
ENST00000228463.6:c.234G>A ENSP00000228463.6:p.Met78Ile
ENST00000388962.4:c.186G>A ENSP00000373614.3:p.Met62Ile
ENST00000550948.1:c.186G>A ENSP00000447752.1:p.Met62Ile
NM_001206609.1:c.234G>A NP_001193538.1:p.Met78Ile
NM_003006.4:c.186G>A MANE Select NP_002997.2:p.Met62Ile
XM_005269076.2:c.186G>A XP_005269133.1:p.Met62Ile
NM_001206609.2:c.234G>A NP_001193538.1:p.Met78Ile
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