Canonical Allele Identifier: CA340646428
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64095249T>C (hg19) chr1:g.63629578T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629578T>C , CM000663.2:g.63629578T>C GRCh38
NC_000001.10:g.64095249T>C , CM000663.1:g.64095249T>C GRCh37
NC_000001.9:g.63867837T>C NCBI36
NG_016966.1:g.41303T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.400T>C MANE Select ENSP00000360125.3:p.Ser134Pro
ENST00000650546.1:c.400T>C ENSP00000497812.1:p.Ser134Pro
ENST00000371083.4:c.454T>C ENSP00000360124.4:p.Ser152Pro
ENST00000371084.7:c.400T>C ENSP00000360125.3:p.Ser134Pro
ENST00000540265.5:c.-192T>C ENSP00000443449.1:n.-192T>C
NM_001172818.1:c.454T>C NP_001166289.1:p.Ser152Pro
NM_001172819.1:c.-192T>C NP_001166290.1:n.-192T>C
NM_002633.2:c.400T>C NP_002624.2:p.Ser134Pro
NM_002633.3:c.400T>C MANE Select NP_002624.2:p.Ser134Pro
NM_001172819.2:c.-192T>C NP_001166290.1:n.-192T>C
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