Canonical Allele Identifier: CA2729535765
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs3216001
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905382dup , CM000676.2:g.50905382dup GRCh38
NC_000014.8:g.51372100dup , CM000676.1:g.51372100dup GRCh37
NC_000014.7:g.50441850dup NCBI36
NG_012796.1:g.44150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*11dup MANE Select ENSP00000216392.7:n.*11dup
ENST00000216392.7:c.*11dup ENSP00000216392.7:n.*11dup
ENST00000532462.5:c.2379+2890dup ENSP00000431657.1:n.2379+2890dup
ENST00000544180.6:c.*11dup ENSP00000443787.1:n.*11dup
NM_001163940.1:c.*11dup NP_001157412.1:n.*11dup
NM_002863.4:c.*11dup NP_002854.3:n.*11dup
NM_002863.5:c.*11dup MANE Select NP_002854.3:n.*11dup
NM_001163940.2:c.*11dup NP_001157412.1:n.*11dup
Search 100 bp 5'
Search 100 bp 3'