Canonical Allele Identifier: CA1745206722
Gene: BPGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.134661743T= , CM000669.2:g.134661743T= GRCh38
NC_000007.13:g.134346495T= , CM000669.1:g.134346495T= GRCh37
NC_000007.12:g.133997035T= NCBI36
NG_012921.1:g.19965T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344924.8:c.236T= MANE Select ENSP00000342032.3:p.Val79=
ENST00000344924.7:c.236T= ENSP00000342032.3:p.Val79=
ENST00000393132.2:c.236T= ENSP00000376840.2:p.Val79=
ENST00000418040.5:c.236T= ENSP00000399838.1:p.Val79=
NM_001293085.1:c.236T= NP_001280014.1:p.Val79=
NM_001724.4:c.236T= NP_001715.1:p.Val79=
NM_199186.2:c.236T= NP_954655.1:p.Val79=
XM_011516527.1:c.236T= XP_011514829.1:p.Val79=
XR_928017.1:n.6821-608A=
XM_011516527.2:c.236T= XP_011514829.1:p.Val79=
NM_001724.5:c.236T= MANE Select NP_001715.1:p.Val79=
NM_001293085.2:c.236T= NP_001280014.1:p.Val79=
NM_199186.3:c.236T= NP_954655.1:p.Val79=