Canonical Allele Identifier: CA360476912

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95728902G>C (hg19) ; chr5:g.96393198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393198G>C , CM000667.2:g.96393198G>C	GRCh38
NC_000005.9:g.95728902G>C , CM000667.1:g.95728902G>C	GRCh37
NC_000005.8:g.95754658G>C	NCBI36
NG_021161.1:g.45084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.2065C>G MANE Select	ENSP00000308024.2:p.Pro689Ala
ENST00000311106.7:c.2065C>G	ENSP00000308024.2:p.Pro689Ala
ENST00000508626.5:c.1924C>G	ENSP00000421600.1:p.Pro642Ala
ENST00000513085.1:n.1208C>G
NM_000439.4:c.2065C>G	NP_000430.3:p.Pro689Ala
NM_001177875.1:c.1924C>G	NP_001171346.1:p.Pro642Ala
NR_130776.1:n.354+13546G>C
NM_000439.5:c.2065C>G MANE Select	NP_000430.3:p.Pro689Ala
NM_001177875.2:c.1924C>G	NP_001171346.1:p.Pro642Ala