Canonical Allele Identifier: CA9922286
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs369625007
ExAC: 20:56139410 A / T
gnomAD v2: 20-56139410-A-T
gnomAD v3: 20-57564354-A-T
gnomAD v4: 20-57564354-A-T
MyVariant Identifiers: chr20:g.56139410A>T (hg19) chr20:g.57564354A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1147A>T MANE Select ENSP00000319814.4:p.Ile383Phe
ENST00000319441.5:c.1147A>T ENSP00000319814.4:p.Ile383Phe
ENST00000467047.1:n.3275A>T
ENST00000485958.1:n.271A>T
NM_002591.3:c.1147A>T NP_002582.3:p.Ile383Phe
XM_011528839.1:c.751A>T XP_011527141.1:p.Ile251Phe
XM_024451888.1:c.751A>T XP_024307656.1:p.Ile251Phe
NM_002591.4:c.1147A>T MANE Select NP_002582.3:p.Ile383Phe
Search 100 bp 5'
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