Canonical Allele Identifier: CA409435299
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070162160
gnomAD v3: 20-57562876-T-C
gnomAD v4: 20-57562876-T-C
MyVariant Identifiers: chr20:g.56137932T>C (hg19) chr20:g.57562876T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562876T>C , CM000682.2:g.57562876T>C GRCh38
NC_000020.10:g.56137932T>C , CM000682.1:g.56137932T>C GRCh37
NC_000020.9:g.55571338T>C NCBI36
NG_008205.1:g.6796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.587T>C MANE Select ENSP00000319814.4:p.Val196Ala
ENST00000319441.5:c.587T>C ENSP00000319814.4:p.Val196Ala
ENST00000467047.1:n.1797T>C
ENST00000470051.1:n.43T>C
ENST00000498194.1:n.529T>C
NM_002591.3:c.587T>C NP_002582.3:p.Val196Ala
XM_011528839.1:c.191T>C XP_011527141.1:p.Val64Ala
XM_024451888.1:c.191T>C XP_024307656.1:p.Val64Ala
NM_002591.4:c.587T>C MANE Select NP_002582.3:p.Val196Ala
Search 100 bp 5'
Search 100 bp 3'