Canonical Allele Identifier: CA458162004

Gene: BPGM

Linked Data

• gnomAD v4: 7-134661691-C-A
• MyVariant Identifiers: chr7:g.134346443C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661691C>A , CM000669.2:g.134661691C>A	GRCh38
NC_000007.13:g.134346443C>A , CM000669.1:g.134346443C>A	GRCh37
NC_000007.12:g.133996983C>A	NCBI36
NG_012921.1:g.19913C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.184C>A MANE Select	ENSP00000342032.3:p.Arg62=
ENST00000344924.7:c.184C>A	ENSP00000342032.3:p.Arg62=
ENST00000393132.2:c.184C>A	ENSP00000376840.2:p.Arg62=
ENST00000418040.5:c.184C>A	ENSP00000399838.1:p.Arg62=
ENST00000443095.1:c.184C>A	ENSP00000403050.1:p.Arg62=
NM_001293085.1:c.184C>A	NP_001280014.1:p.Arg62=
NM_001724.4:c.184C>A	NP_001715.1:p.Arg62=
NM_199186.2:c.184C>A	NP_954655.1:p.Arg62=
XM_011516527.1:c.184C>A	XP_011514829.1:p.Arg62=
XR_928017.1:n.6821-556G>T
XM_011516527.2:c.184C>A	XP_011514829.1:p.Arg62=
NM_001724.5:c.184C>A MANE Select	NP_001715.1:p.Arg62=
NM_001293085.2:c.184C>A	NP_001280014.1:p.Arg62=
NM_199186.3:c.184C>A	NP_954655.1:p.Arg62=