Canonical Allele Identifier: CA360483171

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751791G>T (hg19) ; chr5:g.96416087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416087G>T , CM000667.2:g.96416087G>T	GRCh38
NC_000005.9:g.95751791G>T , CM000667.1:g.95751791G>T	GRCh37
NC_000005.8:g.95777547G>T	NCBI36
NG_021161.1:g.22195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.655C>A MANE Select	ENSP00000308024.2:p.Gln219Lys
ENST00000311106.7:c.655C>A	ENSP00000308024.2:p.Gln219Lys
ENST00000508626.5:c.514C>A	ENSP00000421600.1:p.Gln172Lys
NM_000439.4:c.655C>A	NP_000430.3:p.Gln219Lys
NM_001177875.1:c.514C>A	NP_001171346.1:p.Gln172Lys
NR_130776.1:n.354+36435G>T
NM_000439.5:c.655C>A MANE Select	NP_000430.3:p.Gln219Lys
NM_001177875.2:c.514C>A	NP_001171346.1:p.Gln172Lys