Canonical Allele Identifier: CA360485352
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429307A>T , CM000667.2:g.96429307A>T GRCh38
NC_000005.9:g.95765011A>T , CM000667.1:g.95765011A>T GRCh37
NC_000005.8:g.95790767A>T NCBI36
NG_021161.1:g.8975T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.191T>A MANE Select ENSP00000308024.2:p.Leu64His
ENST00000311106.7:c.191T>A ENSP00000308024.2:p.Leu64His
ENST00000508626.5:c.50T>A ENSP00000421600.1:p.Leu17His
ENST00000509190.1:c.191T>A ENSP00000427294.1:p.Leu64His
NM_000439.4:c.191T>A NP_000430.3:p.Leu64His
NM_001177875.1:c.50T>A NP_001171346.1:p.Leu17His
NR_130776.1:n.354+49655A>T
NM_000439.5:c.191T>A MANE Select NP_000430.3:p.Leu64His
NM_001177875.2:c.50T>A NP_001171346.1:p.Leu17His