Canonical Allele Identifier: CA745890549

Gene: PCK1

Linked Data

• dbSNP Id: rs1344405365
• gnomAD v4: 20-57564835-C-T
• MyVariant Identifiers: chr20:g.56139891C>T (hg19) ; chr20:g.57564835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57564835C>T , CM000682.2:g.57564835C>T	GRCh38
NC_000020.10:g.56139891C>T , CM000682.1:g.56139891C>T	GRCh37
NC_000020.9:g.55573297C>T	NCBI36
NG_008205.1:g.8755C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000319441.6:c.1319-205C>T MANE Select	ENSP00000319814.4:n.1319-205C>T
ENST00000319441.5:c.1319-205C>T	ENSP00000319814.4:n.1319-205C>T
ENST00000467047.1:n.3756C>T
ENST00000485958.1:n.443-205C>T
NM_002591.3:c.1319-205C>T	NP_002582.3:n.1319-205C>T
XM_011528839.1:c.923-205C>T	XP_011527141.1:n.923-205C>T
XM_024451888.1:c.923-205C>T	XP_024307656.1:n.923-205C>T
NM_002591.4:c.1319-205C>T MANE Select	NP_002582.3:n.1319-205C>T