Canonical Allele Identifier: CA360482914

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751735A>T (hg19) ; chr5:g.96416031A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416031A>T , CM000667.2:g.96416031A>T	GRCh38
NC_000005.9:g.95751735A>T , CM000667.1:g.95751735A>T	GRCh37
NC_000005.8:g.95777491A>T	NCBI36
NG_021161.1:g.22251T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.709+2T>A MANE Select	ENSP00000308024.2:n.709+2T>A
ENST00000311106.7:c.709+2T>A	ENSP00000308024.2:n.709+2T>A
ENST00000508626.5:c.568+2T>A	ENSP00000421600.1:n.568+2T>A
NM_000439.4:c.709+2T>A	NP_000430.3:n.709+2T>A
NM_001177875.1:c.568+2T>A	NP_001171346.1:n.568+2T>A
NR_130776.1:n.354+36379A>T
NM_000439.5:c.709+2T>A MANE Select	NP_000430.3:n.709+2T>A
NM_001177875.2:c.568+2T>A	NP_001171346.1:n.568+2T>A