Canonical Allele Identifier: CA7183418
Gene: PYGL HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.50913028C>G
GRCh37 chr14:g.51379746C>G
gnomAD v2:
14:51379746 C / G
gnomAD v3:
14:50913028 C / G
gnomAD v4:
chr14-50913028-C-G
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV001293797
ClinVar Variation:
998110
dbSNP:
113993981
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50913028C>G , CM000676.2:g.50913028C>G GRCh38
NC_000014.8:g.51379746C>G , CM000676.1:g.51379746C>G GRCh37
NC_000014.7:g.50449496C>G NCBI36
NG_012796.1:g.36503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1620+1G>C MANE Select ENSP00000216392.7:n.1620+1G>C
ENST00000216392.7:c.1620+1G>C ENSP00000216392.7:n.1620+1G>C
ENST00000532462.5:c.1620+1G>C ENSP00000431657.1:n.1620+1G>C
ENST00000544180.6:c.1518+1G>C ENSP00000443787.1:n.1518+1G>C
NM_001163940.1:c.1518+1G>C NP_001157412.1:n.1518+1G>C
NM_002863.4:c.1620+1G>C NP_002854.3:n.1620+1G>C
NM_002863.5:c.1620+1G>C MANE Select NP_002854.3:n.1620+1G>C
NM_001163940.2:c.1518+1G>C NP_001157412.1:n.1518+1G>C
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