Canonical Allele Identifier: CA260822316

Gene: PYGL

Linked Data

• dbSNP Id: rs76185044
• gnomAD v2: 14-51378310-G-A
• gnomAD v3: 14-50911592-G-A
• gnomAD v4: 14-50911592-G-A
• MyVariant Identifiers: chr14:g.51378310G>A (hg19) ; chr14:g.50911592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911592G>A , CM000676.2:g.50911592G>A	GRCh38
NC_000014.8:g.51378310G>A , CM000676.1:g.51378310G>A	GRCh37
NC_000014.7:g.50448060G>A	NCBI36
NG_012796.1:g.37939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+138C>T MANE Select	ENSP00000216392.7:n.1969+138C>T
ENST00000216392.7:c.1969+138C>T	ENSP00000216392.7:n.1969+138C>T
ENST00000532107.2:n.142+138C>T
ENST00000532462.5:c.1969+138C>T	ENSP00000431657.1:n.1969+138C>T
ENST00000544180.6:c.1867+138C>T	ENSP00000443787.1:n.1867+138C>T
NM_001163940.1:c.1867+138C>T	NP_001157412.1:n.1867+138C>T
NM_002863.4:c.1969+138C>T	NP_002854.3:n.1969+138C>T
NM_002863.5:c.1969+138C>T MANE Select	NP_002854.3:n.1969+138C>T
NM_001163940.2:c.1867+138C>T	NP_001157412.1:n.1867+138C>T