Canonical Allele Identifier: CA409437185

Gene: PCK1

Linked Data

• MyVariant Identifiers: chr20:g.56140437G>T (hg19) ; chr20:g.57565381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565381G>T , CM000682.2:g.57565381G>T	GRCh38
NC_000020.10:g.56140437G>T , CM000682.1:g.56140437G>T	GRCh37
NC_000020.9:g.55573843G>T	NCBI36
NG_008205.1:g.9301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1446G>T MANE Select	ENSP00000319814.4:p.Met482Ile
ENST00000319441.5:c.1446G>T	ENSP00000319814.4:p.Met482Ile
ENST00000467047.1:n.4088G>T
ENST00000485958.1:n.570G>T
NM_002591.3:c.1446G>T	NP_002582.3:p.Met482Ile
XM_011528839.1:c.1050G>T	XP_011527141.1:p.Met350Ile
XM_024451888.1:c.1050G>T	XP_024307656.1:p.Met350Ile
NM_002591.4:c.1446G>T MANE Select	NP_002582.3:p.Met482Ile