Canonical Allele Identifier: CA458162012

Gene: BPGM

Linked Data

• dbSNP Id: rs1285362516
• gnomAD v2: 7-134346454-C-T
• gnomAD v4: 7-134661702-C-T
• MyVariant Identifiers: chr7:g.134346454C>T (hg19) ; chr7:g.134661702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661702C>T , CM000669.2:g.134661702C>T	GRCh38
NC_000007.13:g.134346454C>T , CM000669.1:g.134346454C>T	GRCh37
NC_000007.12:g.133996994C>T	NCBI36
NG_012921.1:g.19924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.195C>T MANE Select	ENSP00000342032.3:p.His65=
ENST00000344924.7:c.195C>T	ENSP00000342032.3:p.His65=
ENST00000393132.2:c.195C>T	ENSP00000376840.2:p.His65=
ENST00000418040.5:c.195C>T	ENSP00000399838.1:p.His65=
ENST00000443095.1:c.195C>T	ENSP00000403050.1:p.His65=
NM_001293085.1:c.195C>T	NP_001280014.1:p.His65=
NM_001724.4:c.195C>T	NP_001715.1:p.His65=
NM_199186.2:c.195C>T	NP_954655.1:p.His65=
XM_011516527.1:c.195C>T	XP_011514829.1:p.His65=
XR_928017.1:n.6821-567G>A
XM_011516527.2:c.195C>T	XP_011514829.1:p.His65=
NM_001724.5:c.195C>T MANE Select	NP_001715.1:p.His65=
NM_001293085.2:c.195C>T	NP_001280014.1:p.His65=
NM_199186.3:c.195C>T	NP_954655.1:p.His65=