Canonical Allele Identifier: CA3350564

Gene: PCSK1

Linked Data

• dbSNP Id: rs151085748
• ExAC: 5:95765054 C / A
• gnomAD v2: 5-95765054-C-A
• gnomAD v3: 5-96429350-C-A
• gnomAD v4: 5-96429350-C-A
• MyVariant Identifiers: chr5:g.95765054C>A (hg19) ; chr5:g.96429350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429350C>A , CM000667.2:g.96429350C>A	GRCh38
NC_000005.9:g.95765054C>A , CM000667.1:g.95765054C>A	GRCh37
NC_000005.8:g.95790810C>A	NCBI36
NG_021161.1:g.8932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-33G>T MANE Select	ENSP00000308024.2:n.181-33G>T
ENST00000311106.7:c.181-33G>T	ENSP00000308024.2:n.181-33G>T
ENST00000508626.5:c.40-33G>T	ENSP00000421600.1:n.40-33G>T
ENST00000509190.1:c.181-33G>T	ENSP00000427294.1:n.181-33G>T
NM_000439.4:c.181-33G>T	NP_000430.3:n.181-33G>T
NM_001177875.1:c.40-33G>T	NP_001171346.1:n.40-33G>T
NR_130776.1:n.354+49698C>A
NM_000439.5:c.181-33G>T MANE Select	NP_000430.3:n.181-33G>T
NM_001177875.2:c.40-33G>T	NP_001171346.1:n.40-33G>T