Canonical Allele Identifier: CA737022692

Gene: PCSK9

Linked Data

• dbSNP Id: rs1458869235
• MyVariant Identifiers: chr1:g.55505191T>C (hg19) ; chr1:g.55039518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039518T>C , CM000663.2:g.55039518T>C	GRCh38
NC_000001.10:g.55505191T>C , CM000663.1:g.55505191T>C	GRCh37
NC_000001.9:g.55277779T>C	NCBI36
NG_009061.1:g.4972T>C , LRG_275:g.4972T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-320T>C	ENSP00000501161.2:n.-320T>C
ENST00000710286.1:c.38T>C	ENSP00000518176.1:p.Val13Ala
ENST00000673726.1:c.-320T>C	ENSP00000501004.1:n.-320T>C
NM_174936.3:c.-320T>C , LRG_275t1:c.-320T>C	NP_777596.2:n.-320T>C