Canonical Allele Identifier: CA360479140

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95734718C>A (hg19) ; chr5:g.96399014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399014C>A , CM000667.2:g.96399014C>A	GRCh38
NC_000005.9:g.95734718C>A , CM000667.1:g.95734718C>A	GRCh37
NC_000005.8:g.95760474C>A	NCBI36
NG_021161.1:g.39268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1453G>T MANE Select	ENSP00000308024.2:p.Val485Phe
ENST00000311106.7:c.1453G>T	ENSP00000308024.2:p.Val485Phe
ENST00000508626.5:c.1312G>T	ENSP00000421600.1:p.Val438Phe
ENST00000513085.1:n.596G>T
NM_000439.4:c.1453G>T	NP_000430.3:p.Val485Phe
NM_001177875.1:c.1312G>T	NP_001171346.1:p.Val438Phe
NR_130776.1:n.354+19362C>A
NM_000439.5:c.1453G>T MANE Select	NP_000430.3:p.Val485Phe
NM_001177875.2:c.1312G>T	NP_001171346.1:p.Val438Phe