Canonical Allele Identifier: CA656114825
Gene: PYGL HGNC NCBI

Linked Data

COSMIC: COSN19735683
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911582A>C , CM000676.2:g.50911582A>C GRCh38
NC_000014.8:g.51378300A>C , CM000676.1:g.51378300A>C GRCh37
NC_000014.7:g.50448050A>C NCBI36
NG_012796.1:g.37949T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1969+148T>G MANE Select ENSP00000216392.7:n.1969+148T>G
ENST00000216392.7:c.1969+148T>G ENSP00000216392.7:n.1969+148T>G
ENST00000532107.2:n.142+148T>G
ENST00000532462.5:c.1969+148T>G ENSP00000431657.1:n.1969+148T>G
ENST00000544180.6:c.1867+148T>G ENSP00000443787.1:n.1867+148T>G
NM_001163940.1:c.1867+148T>G NP_001157412.1:n.1867+148T>G
NM_002863.4:c.1969+148T>G NP_002854.3:n.1969+148T>G
NM_002863.5:c.1969+148T>G MANE Select NP_002854.3:n.1969+148T>G
NM_001163940.2:c.1867+148T>G NP_001157412.1:n.1867+148T>G
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