Canonical Allele Identifier: CA369472176

Gene: BPGM

Linked Data

• gnomAD v4: 7-134661682-G-A
• MyVariant Identifiers: chr7:g.134346434G>A (hg19) ; chr7:g.134661682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661682G>A , CM000669.2:g.134661682G>A	GRCh38
NC_000007.13:g.134346434G>A , CM000669.1:g.134346434G>A	GRCh37
NC_000007.12:g.133996974G>A	NCBI36
NG_012921.1:g.19904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.175G>A MANE Select	ENSP00000342032.3:p.Val59Ile
ENST00000344924.7:c.175G>A	ENSP00000342032.3:p.Val59Ile
ENST00000393132.2:c.175G>A	ENSP00000376840.2:p.Val59Ile
ENST00000418040.5:c.175G>A	ENSP00000399838.1:p.Val59Ile
ENST00000443095.1:c.175G>A	ENSP00000403050.1:p.Val59Ile
NM_001293085.1:c.175G>A	NP_001280014.1:p.Val59Ile
NM_001724.4:c.175G>A	NP_001715.1:p.Val59Ile
NM_199186.2:c.175G>A	NP_954655.1:p.Val59Ile
XM_011516527.1:c.175G>A	XP_011514829.1:p.Val59Ile
XR_928017.1:n.6821-547C>T
XM_011516527.2:c.175G>A	XP_011514829.1:p.Val59Ile
NM_001724.5:c.175G>A MANE Select	NP_001715.1:p.Val59Ile
NM_001293085.2:c.175G>A	NP_001280014.1:p.Val59Ile
NM_199186.3:c.175G>A	NP_954655.1:p.Val59Ile