Canonical Allele Identifier: CA340646337
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64095238A>C (hg19) chr1:g.63629567A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629567A>C , CM000663.2:g.63629567A>C GRCh38
NC_000001.10:g.64095238A>C , CM000663.1:g.64095238A>C GRCh37
NC_000001.9:g.63867826A>C NCBI36
NG_016966.1:g.41292A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.389A>C MANE Select ENSP00000360125.3:p.Lys130Thr
ENST00000650546.1:c.389A>C ENSP00000497812.1:p.Lys130Thr
ENST00000371083.4:c.443A>C ENSP00000360124.4:p.Lys148Thr
ENST00000371084.7:c.389A>C ENSP00000360125.3:p.Lys130Thr
ENST00000540265.5:c.-203A>C ENSP00000443449.1:n.-203A>C
NM_001172818.1:c.443A>C NP_001166289.1:p.Lys148Thr
NM_001172819.1:c.-203A>C NP_001166290.1:n.-203A>C
NM_002633.2:c.389A>C NP_002624.2:p.Lys130Thr
NM_002633.3:c.389A>C MANE Select NP_002624.2:p.Lys130Thr
NM_001172819.2:c.-203A>C NP_001166290.1:n.-203A>C
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