Canonical Allele Identifier: CA2573042519

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429528T>G , CM000667.2:g.96429528T>G	GRCh38
NC_000005.9:g.95765232T>G , CM000667.1:g.95765232T>G	GRCh37
NC_000005.8:g.95790988T>G	NCBI36
NG_021161.1:g.8754A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-211A>C MANE Select	ENSP00000308024.2:n.181-211A>C
ENST00000311106.7:c.181-211A>C	ENSP00000308024.2:n.181-211A>C
ENST00000508626.5:c.40-211A>C	ENSP00000421600.1:n.40-211A>C
ENST00000509190.1:c.181-211A>C	ENSP00000427294.1:n.181-211A>C
NM_000439.4:c.181-211A>C	NP_000430.3:n.181-211A>C
NM_001177875.1:c.40-211A>C	NP_001171346.1:n.40-211A>C
NR_130776.1:n.354+49876T>G
NM_000439.5:c.181-211A>C MANE Select	NP_000430.3:n.181-211A>C
NM_001177875.2:c.40-211A>C	NP_001171346.1:n.40-211A>C