Canonical Allele Identifier: CA2767553515

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392080T>A , CM000667.2:g.96392080T>A	GRCh38
NC_000005.9:g.95727784T>A , CM000667.1:g.95727784T>A	GRCh37
NC_000005.8:g.95753540T>A	NCBI36
NG_021161.1:g.46202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*921A>T MANE Select	ENSP00000308024.2:n.*921A>T
ENST00000311106.7:c.*921A>T	ENSP00000308024.2:n.*921A>T
NM_000439.4:c.*921A>T	NP_000430.3:n.*921A>T
NM_001177875.1:c.*921A>T	NP_001171346.1:n.*921A>T
NR_130776.1:n.354+12428T>A
NM_000439.5:c.*921A>T MANE Select	NP_000430.3:n.*921A>T
NM_001177875.2:c.*921A>T	NP_001171346.1:n.*921A>T