Canonical Allele Identifier: CA156390
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63654414T>C
GRCh37 chr1:g.64120085T>C
Revel Score:
ENST00000538673 0.915
ENST00000371084 (MANE Select) 0.915
ENST00000540265 0.915
ENST00000371083 0.915
gnomAD v3:
1:63654414 T / C
gnomAD v4:
chr1-63654414-T-C
Joint Max Group AF 0.00000553 (AMR)
ClinVar RCV:
RCV000119799
ClinVar Variation:
133286
dbSNP:
587777401
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63654414T>C , CM000663.2:g.63654414T>C GRCh38
NC_000001.10:g.64120085T>C , CM000663.1:g.64120085T>C GRCh37
NC_000001.9:g.63892673T>C NCBI36
NG_016966.1:g.66139T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1547T>C MANE Select ENSP00000360125.3:p.Leu516Pro
ENST00000650546.1:c.1547T>C ENSP00000497812.1:p.Leu516Pro
ENST00000371083.4:c.1601T>C ENSP00000360124.4:p.Leu534Pro
ENST00000371084.7:c.1547T>C ENSP00000360125.3:p.Leu516Pro
ENST00000483707.1:n.581T>C
ENST00000540265.5:c.956T>C ENSP00000443449.1:p.Leu319Pro
NM_001172818.1:c.1601T>C NP_001166289.1:p.Leu534Pro
NM_001172819.1:c.956T>C NP_001166290.1:p.Leu319Pro
NM_002633.2:c.1547T>C NP_002624.2:p.Leu516Pro
NM_002633.3:c.1547T>C MANE Select NP_002624.2:p.Leu516Pro
NM_001172819.2:c.956T>C NP_001166290.1:p.Leu319Pro
Search 100 bp 5'
Search 100 bp 3'