Canonical Allele Identifier: CA340638229

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64114211G>C (hg19) ; chr1:g.63648540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648540G>C , CM000663.2:g.63648540G>C	GRCh38
NC_000001.10:g.64114211G>C , CM000663.1:g.64114211G>C	GRCh37
NC_000001.9:g.63886799G>C	NCBI36
NG_016966.1:g.60265G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1168G>C MANE Select	ENSP00000360125.3:p.Asp390His
ENST00000650546.1:c.1168G>C	ENSP00000497812.1:p.Asp390His
ENST00000371083.4:c.1222G>C	ENSP00000360124.4:p.Asp408His
ENST00000371084.7:c.1168G>C	ENSP00000360125.3:p.Asp390His
ENST00000540265.5:c.577G>C	ENSP00000443449.1:p.Asp193His
NM_001172818.1:c.1222G>C	NP_001166289.1:p.Asp408His
NM_001172819.1:c.577G>C	NP_001166290.1:p.Asp193His
NM_002633.2:c.1168G>C	NP_002624.2:p.Asp390His
NM_002633.3:c.1168G>C MANE Select	NP_002624.2:p.Asp390His
NM_001172819.2:c.577G>C	NP_001166290.1:p.Asp193His