Canonical Allele Identifier: CA122935569

Gene: PCSK1

Linked Data

• dbSNP Id: rs374478746
• gnomAD v2: 5-95764801-T-C
• gnomAD v3: 5-96429097-T-C
• gnomAD v4: 5-96429097-T-C
• MyVariant Identifiers: chr5:g.95764801T>C (hg19) ; chr5:g.96429097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429097T>C , CM000667.2:g.96429097T>C	GRCh38
NC_000005.9:g.95764801T>C , CM000667.1:g.95764801T>C	GRCh37
NC_000005.8:g.95790557T>C	NCBI36
NG_021161.1:g.9185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+116A>G MANE Select	ENSP00000308024.2:n.285+116A>G
ENST00000311106.7:c.285+116A>G	ENSP00000308024.2:n.285+116A>G
ENST00000508626.5:c.144+116A>G	ENSP00000421600.1:n.144+116A>G
ENST00000509190.1:c.285+116A>G	ENSP00000427294.1:n.285+116A>G
NM_000439.4:c.285+116A>G	NP_000430.3:n.285+116A>G
NM_001177875.1:c.144+116A>G	NP_001171346.1:n.144+116A>G
NR_130776.1:n.354+49445T>C
NM_000439.5:c.285+116A>G MANE Select	NP_000430.3:n.285+116A>G
NM_001177875.2:c.144+116A>G	NP_001171346.1:n.144+116A>G