Canonical Allele Identifier: CA360477160

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95729020G>C (hg19) ; chr5:g.96393316G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393316G>C , CM000667.2:g.96393316G>C	GRCh38
NC_000005.9:g.95729020G>C , CM000667.1:g.95729020G>C	GRCh37
NC_000005.8:g.95754776G>C	NCBI36
NG_021161.1:g.44966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1947C>G MANE Select	ENSP00000308024.2:p.Ser649Arg
ENST00000311106.7:c.1947C>G	ENSP00000308024.2:p.Ser649Arg
ENST00000508626.5:c.1806C>G	ENSP00000421600.1:p.Ser602Arg
ENST00000513085.1:n.1090C>G
NM_000439.4:c.1947C>G	NP_000430.3:p.Ser649Arg
NM_001177875.1:c.1806C>G	NP_001171346.1:p.Ser602Arg
NR_130776.1:n.354+13664G>C
NM_000439.5:c.1947C>G MANE Select	NP_000430.3:p.Ser649Arg
NM_001177875.2:c.1806C>G	NP_001171346.1:p.Ser602Arg