Canonical Allele Identifier: CA445498890
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95764974G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429270G>T , CM000667.2:g.96429270G>T GRCh38
NC_000005.9:g.95764974G>T , CM000667.1:g.95764974G>T GRCh37
NC_000005.8:g.95790730G>T NCBI36
NG_021161.1:g.9012C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.228C>A MANE Select ENSP00000308024.2:p.Pro76=
ENST00000311106.7:c.228C>A ENSP00000308024.2:p.Pro76=
ENST00000508626.5:c.87C>A ENSP00000421600.1:p.Pro29=
ENST00000509190.1:c.228C>A ENSP00000427294.1:p.Pro76=
NM_000439.4:c.228C>A NP_000430.3:p.Pro76=
NM_001177875.1:c.87C>A NP_001171346.1:p.Pro29=
NR_130776.1:n.354+49618G>T
NM_000439.5:c.228C>A MANE Select NP_000430.3:p.Pro76=
NM_001177875.2:c.87C>A NP_001171346.1:p.Pro29=