Canonical Allele Identifier: CA511311016
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2146531005
MyVariant Identifiers: chr20:g.56140542C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565486C>T , CM000682.2:g.57565486C>T GRCh38
NC_000020.10:g.56140542C>T , CM000682.1:g.56140542C>T GRCh37
NC_000020.9:g.55573948C>T NCBI36
NG_008205.1:g.9406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1551C>T MANE Select ENSP00000319814.4:p.Phe517=
ENST00000319441.5:c.1551C>T ENSP00000319814.4:p.Phe517=
ENST00000467047.1:n.4193C>T
NM_002591.3:c.1551C>T NP_002582.3:p.Phe517=
XM_011528839.1:c.1155C>T XP_011527141.1:p.Phe385=
XM_024451888.1:c.1155C>T XP_024307656.1:p.Phe385=
NM_002591.4:c.1551C>T MANE Select NP_002582.3:p.Phe517=
Search 100 bp 5'
Search 100 bp 3'