Canonical Allele Identifier: CA369472173

Gene: BPGM

Linked Data

• MyVariant Identifiers: chr7:g.134346432C>A (hg19) ; chr7:g.134661680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661680C>A , CM000669.2:g.134661680C>A	GRCh38
NC_000007.13:g.134346432C>A , CM000669.1:g.134346432C>A	GRCh37
NC_000007.12:g.133996972C>A	NCBI36
NG_012921.1:g.19902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.173C>A MANE Select	ENSP00000342032.3:p.Ser58Tyr
ENST00000344924.7:c.173C>A	ENSP00000342032.3:p.Ser58Tyr
ENST00000393132.2:c.173C>A	ENSP00000376840.2:p.Ser58Tyr
ENST00000418040.5:c.173C>A	ENSP00000399838.1:p.Ser58Tyr
ENST00000443095.1:c.173C>A	ENSP00000403050.1:p.Ser58Tyr
NM_001293085.1:c.173C>A	NP_001280014.1:p.Ser58Tyr
NM_001724.4:c.173C>A	NP_001715.1:p.Ser58Tyr
NM_199186.2:c.173C>A	NP_954655.1:p.Ser58Tyr
XM_011516527.1:c.173C>A	XP_011514829.1:p.Ser58Tyr
XR_928017.1:n.6821-545G>T
XM_011516527.2:c.173C>A	XP_011514829.1:p.Ser58Tyr
NM_001724.5:c.173C>A MANE Select	NP_001715.1:p.Ser58Tyr
NM_001293085.2:c.173C>A	NP_001280014.1:p.Ser58Tyr
NM_199186.3:c.173C>A	NP_954655.1:p.Ser58Tyr