Canonical Allele Identifier: CA14114004

Gene: PCSK6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101325267T>C , CM000677.2:g.101325267T>C	GRCh38
NC_000015.9:g.101865472T>C , CM000677.1:g.101865472T>C	GRCh37
NC_000015.8:g.99682995T>C	NCBI36
NG_030047.3:g.204936A>G
NG_030047.4:g.204936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611716.5:c.2181-221A>G MANE Select	ENSP00000482760.1:n.2181-221A>G
ENST00000676598.1:n.798-221A>G
ENST00000677364.1:c.1149-221A>G	ENSP00000503544.1:n.1149-221A>G
ENST00000677528.1:c.2142-221A>G	ENSP00000503660.1:n.2142-221A>G
ENST00000677962.1:n.3397A>G
ENST00000679007.1:n.1193-221A>G
ENST00000398185.6:c.1665-221A>G	ENSP00000381246.2:n.1665-221A>G
ENST00000557794.5:n.124-11762A>G
ENST00000558951.5:c.286+6384A>G	ENSP00000453771.1:n.286+6384A>G
ENST00000559605.1:c.272-221A>G
ENST00000611716.4:c.2181-221A>G	ENSP00000482760.1:n.2181-221A>G
ENST00000618548.4:c.2142-221A>G	ENSP00000479496.1:n.2142-221A>G
ENST00000619160.4:c.2142-221A>G	ENSP00000482831.1:n.2142-221A>G
ENST00000622483.4:c.2181-221A>G	ENSP00000481556.1:n.2181-221A>G
ENST00000632686.1:c.198-221A>G	ENSP00000487813.1:n.198-221A>G
NM_001291309.1:c.1959-221A>G	NP_001278238.1:n.1959-221A>G
NM_002570.4:c.2181-221A>G	NP_002561.1:n.2181-221A>G
NM_138319.3:c.2142-221A>G	NP_612192.1:n.2142-221A>G
NM_002570.5:c.2181-221A>G MANE Select	NP_002561.1:n.2181-221A>G
NM_001291309.2:c.1959-221A>G	NP_001278238.1:n.1959-221A>G
NM_138319.4:c.2142-221A>G	NP_612192.1:n.2142-221A>G