Canonical Allele Identifier: CA889706
Community Standard Title: NM_002633.3(PGM1):c.1029-8C>G
Gene: PGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63638677C>G , CM000663.2:g.63638677C>G GRCh38
NC_000001.10:g.64104348C>G , CM000663.1:g.64104348C>G GRCh37
NC_000001.9:g.63876936C>G NCBI36
NG_016966.1:g.50402C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002633.3:c.1029-8C>G MANE Select NP_002624.2:n.1029-8C>G
ENST00000371084.8:c.1029-8C>G MANE Select ENSP00000360125.3:n.1029-8C>G
NM_001172818.1:c.1083-8C>G NP_001166289.1:n.1083-8C>G
NM_001172819.1:c.438-8C>G NP_001166290.1:n.438-8C>G
NM_001172819.2:c.438-8C>G NP_001166290.1:n.438-8C>G
NM_002633.2:c.1029-8C>G NP_002624.2:n.1029-8C>G
ENST00000371083.4:c.1083-8C>G ENSP00000360124.4:n.1083-8C>G
ENST00000371084.7:c.1029-8C>G ENSP00000360125.3:n.1029-8C>G
ENST00000540265.5:c.438-8C>G ENSP00000443449.1:n.438-8C>G
ENST00000650546.1:c.1029-8C>G ENSP00000497812.1:n.1029-8C>G