Canonical Allele Identifier: CA360485350

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95765011A>C (hg19) ; chr5:g.96429307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429307A>C , CM000667.2:g.96429307A>C	GRCh38
NC_000005.9:g.95765011A>C , CM000667.1:g.95765011A>C	GRCh37
NC_000005.8:g.95790767A>C	NCBI36
NG_021161.1:g.8975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.191T>G MANE Select	ENSP00000308024.2:p.Leu64Arg
ENST00000311106.7:c.191T>G	ENSP00000308024.2:p.Leu64Arg
ENST00000508626.5:c.50T>G	ENSP00000421600.1:p.Leu17Arg
ENST00000509190.1:c.191T>G	ENSP00000427294.1:p.Leu64Arg
NM_000439.4:c.191T>G	NP_000430.3:p.Leu64Arg
NM_001177875.1:c.50T>G	NP_001171346.1:p.Leu17Arg
NR_130776.1:n.354+49655A>C
NM_000439.5:c.191T>G MANE Select	NP_000430.3:p.Leu64Arg
NM_001177875.2:c.50T>G	NP_001171346.1:p.Leu17Arg