Canonical Allele Identifier: CA458162081

Gene: BPGM

Linked Data

• dbSNP Id: rs1795737256
• gnomAD v3: 7-134661771-T-C
• gnomAD v4: 7-134661771-T-C
• MyVariant Identifiers: chr7:g.134346523T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661771T>C , CM000669.2:g.134661771T>C	GRCh38
NC_000007.13:g.134346523T>C , CM000669.1:g.134346523T>C	GRCh37
NC_000007.12:g.133997063T>C	NCBI36
NG_012921.1:g.19993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.264T>C MANE Select	ENSP00000342032.3:p.Asn88=
ENST00000344924.7:c.264T>C	ENSP00000342032.3:p.Asn88=
ENST00000393132.2:c.264T>C	ENSP00000376840.2:p.Asn88=
ENST00000418040.5:c.264T>C	ENSP00000399838.1:p.Asn88=
NM_001293085.1:c.264T>C	NP_001280014.1:p.Asn88=
NM_001724.4:c.264T>C	NP_001715.1:p.Asn88=
NM_199186.2:c.264T>C	NP_954655.1:p.Asn88=
XM_011516527.1:c.264T>C	XP_011514829.1:p.Asn88=
XR_928017.1:n.6821-636A>G
XM_011516527.2:c.264T>C	XP_011514829.1:p.Asn88=
NM_001724.5:c.264T>C MANE Select	NP_001715.1:p.Asn88=
NM_001293085.2:c.264T>C	NP_001280014.1:p.Asn88=
NM_199186.3:c.264T>C	NP_954655.1:p.Asn88=