Canonical Allele Identifier: CA409437128

Gene: PCK1

Linked Data

• MyVariant Identifiers: chr20:g.56140414A>T (hg19) ; chr20:g.57565358A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565358A>T , CM000682.2:g.57565358A>T	GRCh38
NC_000020.10:g.56140414A>T , CM000682.1:g.56140414A>T	GRCh37
NC_000020.9:g.55573820A>T	NCBI36
NG_008205.1:g.9278A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1423A>T MANE Select	ENSP00000319814.4:p.Ile475Phe
ENST00000319441.5:c.1423A>T	ENSP00000319814.4:p.Ile475Phe
ENST00000467047.1:n.4065A>T
ENST00000485958.1:n.547A>T
NM_002591.3:c.1423A>T	NP_002582.3:p.Ile475Phe
XM_011528839.1:c.1027A>T	XP_011527141.1:p.Ile343Phe
XM_024451888.1:c.1027A>T	XP_024307656.1:p.Ile343Phe
NM_002591.4:c.1423A>T MANE Select	NP_002582.3:p.Ile475Phe