Canonical Allele Identifier: CA381164649

Gene: PYGM

Linked Data

• dbSNP Id: rs2058315784
• gnomAD v4: 11-64746980-C-G
• MyVariant Identifiers: chr11:g.64514452C>G (hg19) ; chr11:g.64746980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64746980C>G , CM000673.2:g.64746980C>G	GRCh38
NC_000011.9:g.64514452C>G , CM000673.1:g.64514452C>G	GRCh37
NC_000011.8:g.64271028C>G	NCBI36
NG_007574.1:g.3477G>C , LRG_100:g.3477G>C
NG_013018.1:g.18736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2320G>C MANE Select	ENSP00000164139.3:p.Val774Leu
ENST00000164139.3:c.2320G>C	ENSP00000164139.3:p.Val774Leu
ENST00000377432.7:c.2056G>C	ENSP00000366650.3:p.Val686Leu
ENST00000483742.1:n.1673G>C
NM_001164716.1:c.2056G>C	NP_001158188.1:p.Val686Leu
NM_005609.2:c.2320G>C	NP_005600.1:p.Val774Leu
NM_005609.3:c.2320G>C	NP_005600.1:p.Val774Leu
NM_005609.4:c.2320G>C MANE Select	NP_005600.1:p.Val774Leu