Canonical Allele Identifier: CA706601458

Gene: PYGL

Linked Data

• dbSNP Id: rs1283587338
• MyVariant Identifiers: chr14:g.51372048G>A (hg19) ; chr14:g.50905330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905330G>A , CM000676.2:g.50905330G>A	GRCh38
NC_000014.8:g.51372048G>A , CM000676.1:g.51372048G>A	GRCh37
NC_000014.7:g.50441798G>A	NCBI36
NG_012796.1:g.44201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*62C>T MANE Select	ENSP00000216392.7:n.*62C>T
ENST00000216392.7:c.*62C>T	ENSP00000216392.7:n.*62C>T
ENST00000532462.5:c.2379+2941C>T	ENSP00000431657.1:n.2379+2941C>T
ENST00000544180.6:c.*62C>T	ENSP00000443787.1:n.*62C>T
NM_001163940.1:c.*62C>T	NP_001157412.1:n.*62C>T
NM_002863.4:c.*62C>T	NP_002854.3:n.*62C>T
NM_002863.5:c.*62C>T MANE Select	NP_002854.3:n.*62C>T
NM_001163940.2:c.*62C>T	NP_001157412.1:n.*62C>T