Canonical Allele Identifier: CA511310994
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2146530942
MyVariant Identifiers: chr20:g.56140506A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565450A>C , CM000682.2:g.57565450A>C GRCh38
NC_000020.10:g.56140506A>C , CM000682.1:g.56140506A>C GRCh37
NC_000020.9:g.55573912A>C NCBI36
NG_008205.1:g.9370A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1515A>C MANE Select ENSP00000319814.4:p.Ala505=
ENST00000319441.5:c.1515A>C ENSP00000319814.4:p.Ala505=
ENST00000467047.1:n.4157A>C
NM_002591.3:c.1515A>C NP_002582.3:p.Ala505=
XM_011528839.1:c.1119A>C XP_011527141.1:p.Ala373=
XM_024451888.1:c.1119A>C XP_024307656.1:p.Ala373=
NM_002591.4:c.1515A>C MANE Select NP_002582.3:p.Ala505=