Canonical Allele Identifier: CA369472224

Gene: BPGM

Linked Data

• MyVariant Identifiers: chr7:g.134346458G>T (hg19) ; chr7:g.134661706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661706G>T , CM000669.2:g.134661706G>T	GRCh38
NC_000007.13:g.134346458G>T , CM000669.1:g.134346458G>T	GRCh37
NC_000007.12:g.133996998G>T	NCBI36
NG_012921.1:g.19928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.199G>T MANE Select	ENSP00000342032.3:p.Ala67Ser
ENST00000344924.7:c.199G>T	ENSP00000342032.3:p.Ala67Ser
ENST00000393132.2:c.199G>T	ENSP00000376840.2:p.Ala67Ser
ENST00000418040.5:c.199G>T	ENSP00000399838.1:p.Ala67Ser
ENST00000443095.1:c.199G>T	ENSP00000403050.1:p.Ala67Ser
NM_001293085.1:c.199G>T	NP_001280014.1:p.Ala67Ser
NM_001724.4:c.199G>T	NP_001715.1:p.Ala67Ser
NM_199186.2:c.199G>T	NP_954655.1:p.Ala67Ser
XM_011516527.1:c.199G>T	XP_011514829.1:p.Ala67Ser
XR_928017.1:n.6821-571C>A
XM_011516527.2:c.199G>T	XP_011514829.1:p.Ala67Ser
NM_001724.5:c.199G>T MANE Select	NP_001715.1:p.Ala67Ser
NM_001293085.2:c.199G>T	NP_001280014.1:p.Ala67Ser
NM_199186.3:c.199G>T	NP_954655.1:p.Ala67Ser