Canonical Allele Identifier: CA369472311

Gene: BPGM

Linked Data

• MyVariant Identifiers: chr7:g.134346497C>G (hg19) ; chr7:g.134661745C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661745C>G , CM000669.2:g.134661745C>G	GRCh38
NC_000007.13:g.134346497C>G , CM000669.1:g.134346497C>G	GRCh37
NC_000007.12:g.133997037C>G	NCBI36
NG_012921.1:g.19967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.238C>G MANE Select	ENSP00000342032.3:p.Pro80Ala
ENST00000344924.7:c.238C>G	ENSP00000342032.3:p.Pro80Ala
ENST00000393132.2:c.238C>G	ENSP00000376840.2:p.Pro80Ala
ENST00000418040.5:c.238C>G	ENSP00000399838.1:p.Pro80Ala
NM_001293085.1:c.238C>G	NP_001280014.1:p.Pro80Ala
NM_001724.4:c.238C>G	NP_001715.1:p.Pro80Ala
NM_199186.2:c.238C>G	NP_954655.1:p.Pro80Ala
XM_011516527.1:c.238C>G	XP_011514829.1:p.Pro80Ala
XR_928017.1:n.6821-610G>C
XM_011516527.2:c.238C>G	XP_011514829.1:p.Pro80Ala
NM_001724.5:c.238C>G MANE Select	NP_001715.1:p.Pro80Ala
NM_001293085.2:c.238C>G	NP_001280014.1:p.Pro80Ala
NM_199186.3:c.238C>G	NP_954655.1:p.Pro80Ala