Canonical Allele Identifier: CA369472365

Gene: BPGM

Linked Data

• gnomAD v4: 7-134661770-A-G
• MyVariant Identifiers: chr7:g.134346522A>G (hg19) ; chr7:g.134661770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661770A>G , CM000669.2:g.134661770A>G	GRCh38
NC_000007.13:g.134346522A>G , CM000669.1:g.134346522A>G	GRCh37
NC_000007.12:g.133997062A>G	NCBI36
NG_012921.1:g.19992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.263A>G MANE Select	ENSP00000342032.3:p.Asn88Ser
ENST00000344924.7:c.263A>G	ENSP00000342032.3:p.Asn88Ser
ENST00000393132.2:c.263A>G	ENSP00000376840.2:p.Asn88Ser
ENST00000418040.5:c.263A>G	ENSP00000399838.1:p.Asn88Ser
NM_001293085.1:c.263A>G	NP_001280014.1:p.Asn88Ser
NM_001724.4:c.263A>G	NP_001715.1:p.Asn88Ser
NM_199186.2:c.263A>G	NP_954655.1:p.Asn88Ser
XM_011516527.1:c.263A>G	XP_011514829.1:p.Asn88Ser
XR_928017.1:n.6821-635T>C
XM_011516527.2:c.263A>G	XP_011514829.1:p.Asn88Ser
NM_001724.5:c.263A>G MANE Select	NP_001715.1:p.Asn88Ser
NM_001293085.2:c.263A>G	NP_001280014.1:p.Asn88Ser
NM_199186.3:c.263A>G	NP_954655.1:p.Asn88Ser