Canonical Allele Identifier: CA369472332

Gene: BPGM

Linked Data

• MyVariant Identifiers: chr7:g.134346507G>A (hg19) ; chr7:g.134661755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661755G>A , CM000669.2:g.134661755G>A	GRCh38
NC_000007.13:g.134346507G>A , CM000669.1:g.134346507G>A	GRCh37
NC_000007.12:g.133997047G>A	NCBI36
NG_012921.1:g.19977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.248G>A MANE Select	ENSP00000342032.3:p.Ser83Asn
ENST00000344924.7:c.248G>A	ENSP00000342032.3:p.Ser83Asn
ENST00000393132.2:c.248G>A	ENSP00000376840.2:p.Ser83Asn
ENST00000418040.5:c.248G>A	ENSP00000399838.1:p.Ser83Asn
NM_001293085.1:c.248G>A	NP_001280014.1:p.Ser83Asn
NM_001724.4:c.248G>A	NP_001715.1:p.Ser83Asn
NM_199186.2:c.248G>A	NP_954655.1:p.Ser83Asn
XM_011516527.1:c.248G>A	XP_011514829.1:p.Ser83Asn
XR_928017.1:n.6821-620C>T
XM_011516527.2:c.248G>A	XP_011514829.1:p.Ser83Asn
NM_001724.5:c.248G>A MANE Select	NP_001715.1:p.Ser83Asn
NM_001293085.2:c.248G>A	NP_001280014.1:p.Ser83Asn
NM_199186.3:c.248G>A	NP_954655.1:p.Ser83Asn