Canonical Allele Identifier: CA381165882

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64514819T>G (hg19) ; chr11:g.64747347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747347T>G , CM000673.2:g.64747347T>G	GRCh38
NC_000011.9:g.64514819T>G , CM000673.1:g.64514819T>G	GRCh37
NC_000011.8:g.64271395T>G	NCBI36
NG_007574.1:g.3110A>C , LRG_100:g.3110A>C
NG_013018.1:g.18369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2189A>C MANE Select	ENSP00000164139.3:p.Gln730Pro
ENST00000164139.3:c.2189A>C	ENSP00000164139.3:p.Gln730Pro
ENST00000377432.7:c.1925A>C	ENSP00000366650.3:p.Gln642Pro
ENST00000483742.1:n.1542A>C
NM_001164716.1:c.1925A>C	NP_001158188.1:p.Gln642Pro
NM_005609.2:c.2189A>C	NP_005600.1:p.Gln730Pro
NM_005609.3:c.2189A>C	NP_005600.1:p.Gln730Pro
NM_005609.4:c.2189A>C MANE Select	NP_005600.1:p.Gln730Pro