Canonical Allele Identifier: CA360485233

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429255-C-A
• MyVariant Identifiers: chr5:g.95764959C>A (hg19) ; chr5:g.96429255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429255C>A , CM000667.2:g.96429255C>A	GRCh38
NC_000005.9:g.95764959C>A , CM000667.1:g.95764959C>A	GRCh37
NC_000005.8:g.95790715C>A	NCBI36
NG_021161.1:g.9027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.243G>T MANE Select	ENSP00000308024.2:p.Arg81Ser
ENST00000311106.7:c.243G>T	ENSP00000308024.2:p.Arg81Ser
ENST00000508626.5:c.102G>T	ENSP00000421600.1:p.Arg34Ser
ENST00000509190.1:c.243G>T	ENSP00000427294.1:p.Arg81Ser
NM_000439.4:c.243G>T	NP_000430.3:p.Arg81Ser
NM_001177875.1:c.102G>T	NP_001171346.1:p.Arg34Ser
NR_130776.1:n.354+49603C>A
NM_000439.5:c.243G>T MANE Select	NP_000430.3:p.Arg81Ser
NM_001177875.2:c.102G>T	NP_001171346.1:p.Arg34Ser