Canonical Allele Identifier: CA340638198

Gene: PGM1

Linked Data

• dbSNP Id: rs548040301
• gnomAD v2: 1-64114203-G-T
• gnomAD v3: 1-63648532-G-T
• gnomAD v4: 1-63648532-G-T
• MyVariant Identifiers: chr1:g.64114203G>T (hg19) ; chr1:g.63648532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648532G>T , CM000663.2:g.63648532G>T	GRCh38
NC_000001.10:g.64114203G>T , CM000663.1:g.64114203G>T	GRCh37
NC_000001.9:g.63886791G>T	NCBI36
NG_016966.1:g.60257G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1160G>T MANE Select	ENSP00000360125.3:p.Arg387Leu
ENST00000650546.1:c.1160G>T	ENSP00000497812.1:p.Arg387Leu
ENST00000371083.4:c.1214G>T	ENSP00000360124.4:p.Arg405Leu
ENST00000371084.7:c.1160G>T	ENSP00000360125.3:p.Arg387Leu
ENST00000540265.5:c.569G>T	ENSP00000443449.1:p.Arg190Leu
NM_001172818.1:c.1214G>T	NP_001166289.1:p.Arg405Leu
NM_001172819.1:c.569G>T	NP_001166290.1:p.Arg190Leu
NM_002633.2:c.1160G>T	NP_002624.2:p.Arg387Leu
NM_002633.3:c.1160G>T MANE Select	NP_002624.2:p.Arg387Leu
NM_001172819.2:c.569G>T	NP_001166290.1:p.Arg190Leu