Canonical Allele Identifier: CA340483833

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509679T>C (hg19) ; chr1:g.55044006T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044006T>C , CM000663.2:g.55044006T>C	GRCh38
NC_000001.10:g.55509679T>C , CM000663.1:g.55509679T>C	GRCh37
NC_000001.9:g.55282267T>C	NCBI36
NG_009061.1:g.9460T>C , LRG_275:g.9460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.371T>C	ENSP00000501161.2:p.Val124Ala
ENST00000710286.1:c.728T>C	ENSP00000518176.1:p.Val243Ala
ENST00000673662.1:n.41T>C
ENST00000673726.1:c.371T>C	ENSP00000501004.1:p.Val124Ala
ENST00000673903.1:c.-5T>C	ENSP00000501257.1:n.-5T>C
ENST00000302118.5:c.371T>C MANE Select	ENSP00000303208.5:p.Val124Ala
NM_174936.3:c.371T>C , LRG_275t1:c.371T>C	NP_777596.2:p.Val124Ala
NR_110451.1:n.182+3603T>C
NM_174936.4:c.371T>C MANE Select	NP_777596.2:p.Val124Ala
NR_110451.2:n.182+3603T>C