Canonical Allele Identifier: CA360485317

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95764997A>C (hg19) ; chr5:g.96429293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429293A>C , CM000667.2:g.96429293A>C	GRCh38
NC_000005.9:g.95764997A>C , CM000667.1:g.95764997A>C	GRCh37
NC_000005.8:g.95790753A>C	NCBI36
NG_021161.1:g.8989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.205T>G MANE Select	ENSP00000308024.2:p.Leu69Val
ENST00000311106.7:c.205T>G	ENSP00000308024.2:p.Leu69Val
ENST00000508626.5:c.64T>G	ENSP00000421600.1:p.Leu22Val
ENST00000509190.1:c.205T>G	ENSP00000427294.1:p.Leu69Val
NM_000439.4:c.205T>G	NP_000430.3:p.Leu69Val
NM_001177875.1:c.64T>G	NP_001171346.1:p.Leu22Val
NR_130776.1:n.354+49641A>C
NM_000439.5:c.205T>G MANE Select	NP_000430.3:p.Leu69Val
NM_001177875.2:c.64T>G	NP_001171346.1:p.Leu22Val