Canonical Allele Identifier: CA409436507
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs369625007
gnomAD v2: 20-56139410-A-G
gnomAD v4: 20-57564354-A-G
MyVariant Identifiers: chr20:g.56139410A>G (hg19) chr20:g.57564354A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564354A>G , CM000682.2:g.57564354A>G GRCh38
NC_000020.10:g.56139410A>G , CM000682.1:g.56139410A>G GRCh37
NC_000020.9:g.55572816A>G NCBI36
NG_008205.1:g.8274A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1147A>G MANE Select ENSP00000319814.4:p.Ile383Val
ENST00000319441.5:c.1147A>G ENSP00000319814.4:p.Ile383Val
ENST00000467047.1:n.3275A>G
ENST00000485958.1:n.271A>G
NM_002591.3:c.1147A>G NP_002582.3:p.Ile383Val
XM_011528839.1:c.751A>G XP_011527141.1:p.Ile251Val
XM_024451888.1:c.751A>G XP_024307656.1:p.Ile251Val
NM_002591.4:c.1147A>G MANE Select NP_002582.3:p.Ile383Val
Search 100 bp 5'
Search 100 bp 3'