Canonical Allele Identifier: CA409435163
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2146527660
MyVariant Identifiers: chr20:g.56137864G>C (hg19) chr20:g.57562808G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562808G>C , CM000682.2:g.57562808G>C GRCh38
NC_000020.10:g.56137864G>C , CM000682.1:g.56137864G>C GRCh37
NC_000020.9:g.55571270G>C NCBI36
NG_008205.1:g.6728G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.519G>C MANE Select ENSP00000319814.4:p.Met173Ile
ENST00000319441.5:c.519G>C ENSP00000319814.4:p.Met173Ile
ENST00000467047.1:n.1729G>C
ENST00000498194.1:n.461G>C
NM_002591.3:c.519G>C NP_002582.3:p.Met173Ile
XM_011528839.1:c.123G>C XP_011527141.1:p.Met41Ile
XM_024451888.1:c.123G>C XP_024307656.1:p.Met41Ile
NM_002591.4:c.519G>C MANE Select NP_002582.3:p.Met173Ile
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