Canonical Allele Identifier: CA340638799
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64059173T>C (hg19) chr1:g.63593502T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593502T>C , CM000663.2:g.63593502T>C GRCh38
NC_000001.10:g.64059173T>C , CM000663.1:g.64059173T>C GRCh37
NC_000001.9:g.63831761T>C NCBI36
NG_016966.1:g.5227T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.14T>C (PGM1) MANE Select ENSP00000360125.3:p.Val5Ala
ENST00000650546.1:c.14T>C (PGM1) ENSP00000497812.1:p.Val5Ala
ENST00000371084.7:c.14T>C (PGM1) ENSP00000360125.3:p.Val5Ala
ENST00000478138.1:n.197+23A>G (ITGB3BP)
NM_002633.2:c.14T>C (PGM1) NP_002624.2:p.Val5Ala
NM_002633.3:c.14T>C (PGM1) MANE Select NP_002624.2:p.Val5Ala
Search 100 bp 5'
Search 100 bp 3'