Canonical Allele Identifier: CA458162091
Gene: BPGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.134346529T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.134661777T>C , CM000669.2:g.134661777T>C GRCh38
NC_000007.13:g.134346529T>C , CM000669.1:g.134346529T>C GRCh37
NC_000007.12:g.133997069T>C NCBI36
NG_012921.1:g.19999T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344924.8:c.270T>C MANE Select ENSP00000342032.3:p.Arg90=
ENST00000344924.7:c.270T>C ENSP00000342032.3:p.Arg90=
ENST00000393132.2:c.270T>C ENSP00000376840.2:p.Arg90=
ENST00000418040.5:c.270T>C ENSP00000399838.1:p.Arg90=
NM_001293085.1:c.270T>C NP_001280014.1:p.Arg90=
NM_001724.4:c.270T>C NP_001715.1:p.Arg90=
NM_199186.2:c.270T>C NP_954655.1:p.Arg90=
XM_011516527.1:c.270T>C XP_011514829.1:p.Arg90=
XR_928017.1:n.6821-642A>G
XM_011516527.2:c.270T>C XP_011514829.1:p.Arg90=
NM_001724.5:c.270T>C MANE Select NP_001715.1:p.Arg90=
NM_001293085.2:c.270T>C NP_001280014.1:p.Arg90=
NM_199186.3:c.270T>C NP_954655.1:p.Arg90=