Canonical Allele Identifier: CA369472286

Gene: BPGM

Linked Data

• MyVariant Identifiers: chr7:g.134346487G>C (hg19) ; chr7:g.134661735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661735G>C , CM000669.2:g.134661735G>C	GRCh38
NC_000007.13:g.134346487G>C , CM000669.1:g.134346487G>C	GRCh37
NC_000007.12:g.133997027G>C	NCBI36
NG_012921.1:g.19957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.228G>C MANE Select	ENSP00000342032.3:p.Gln76His
ENST00000344924.7:c.228G>C	ENSP00000342032.3:p.Gln76His
ENST00000393132.2:c.228G>C	ENSP00000376840.2:p.Gln76His
ENST00000418040.5:c.228G>C	ENSP00000399838.1:p.Gln76His
ENST00000443095.1:c.228G>C	ENSP00000403050.1:p.Gln76His
NM_001293085.1:c.228G>C	NP_001280014.1:p.Gln76His
NM_001724.4:c.228G>C	NP_001715.1:p.Gln76His
NM_199186.2:c.228G>C	NP_954655.1:p.Gln76His
XM_011516527.1:c.228G>C	XP_011514829.1:p.Gln76His
XR_928017.1:n.6821-600C>G
XM_011516527.2:c.228G>C	XP_011514829.1:p.Gln76His
NM_001724.5:c.228G>C MANE Select	NP_001715.1:p.Gln76His
NM_001293085.2:c.228G>C	NP_001280014.1:p.Gln76His
NM_199186.3:c.228G>C	NP_954655.1:p.Gln76His