Canonical Allele Identifier: CA445491653
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95734728A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399024A>C , CM000667.2:g.96399024A>C GRCh38
NC_000005.9:g.95734728A>C , CM000667.1:g.95734728A>C GRCh37
NC_000005.8:g.95760484A>C NCBI36
NG_021161.1:g.39258T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000311106.8:c.1443T>G MANE Select ENSP00000308024.2:p.Ala481=
ENST00000311106.7:c.1443T>G ENSP00000308024.2:p.Ala481=
ENST00000508626.5:c.1302T>G ENSP00000421600.1:p.Ala434=
ENST00000513085.1:n.586T>G
NM_000439.4:c.1443T>G NP_000430.3:p.Ala481=
NM_001177875.1:c.1302T>G NP_001171346.1:p.Ala434=
NR_130776.1:n.354+19372A>C
NM_000439.5:c.1443T>G MANE Select NP_000430.3:p.Ala481=
NM_001177875.2:c.1302T>G NP_001171346.1:p.Ala434=
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