Canonical Allele Identifier: CA636198402
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1257048880
gnomAD v2: 20-56139908-T-C
gnomAD v3: 20-57564852-T-C
gnomAD v4: 20-57564852-T-C
MyVariant Identifiers: chr20:g.56139908T>C (hg19) chr20:g.57564852T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564852T>C , CM000682.2:g.57564852T>C GRCh38
NC_000020.10:g.56139908T>C , CM000682.1:g.56139908T>C GRCh37
NC_000020.9:g.55573314T>C NCBI36
NG_008205.1:g.8772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1319-188T>C MANE Select ENSP00000319814.4:n.1319-188T>C
ENST00000319441.5:c.1319-188T>C ENSP00000319814.4:n.1319-188T>C
ENST00000467047.1:n.3773T>C
ENST00000485958.1:n.443-188T>C
NM_002591.3:c.1319-188T>C NP_002582.3:n.1319-188T>C
XM_011528839.1:c.923-188T>C XP_011527141.1:n.923-188T>C
XM_024451888.1:c.923-188T>C XP_024307656.1:n.923-188T>C
NM_002591.4:c.1319-188T>C MANE Select NP_002582.3:n.1319-188T>C
Search 100 bp 5'
Search 100 bp 3'