Canonical Allele Identifier: CA445491634
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95734701T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96398997T>A , CM000667.2:g.96398997T>A GRCh38
NC_000005.9:g.95734701T>A , CM000667.1:g.95734701T>A GRCh37
NC_000005.8:g.95760457T>A NCBI36
NG_021161.1:g.39285A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1470A>T MANE Select ENSP00000308024.2:p.Pro490=
ENST00000311106.7:c.1470A>T ENSP00000308024.2:p.Pro490=
ENST00000508626.5:c.1329A>T ENSP00000421600.1:p.Pro443=
ENST00000513085.1:n.613A>T
NM_000439.4:c.1470A>T NP_000430.3:p.Pro490=
NM_001177875.1:c.1329A>T NP_001171346.1:p.Pro443=
NR_130776.1:n.354+19345T>A
NM_000439.5:c.1470A>T MANE Select NP_000430.3:p.Pro490=
NM_001177875.2:c.1329A>T NP_001171346.1:p.Pro443=