Canonical Allele Identifier: CA710744171

Gene: PCSK6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101365954T>G , CM000677.2:g.101365954T>G	GRCh38
NC_000015.9:g.101906159T>G , CM000677.1:g.101906159T>G	GRCh37
NC_000015.8:g.99723682T>G	NCBI36
NG_030047.3:g.164249A>C
NG_030047.4:g.164249A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331826.12:c.1858+242A>C	ENSP00000332052.8:n.1858+242A>C
ENST00000558154.2:c.986A>C
ENST00000559417.2:c.1714+242A>C	ENSP00000452997.2:n.1714+242A>C
ENST00000611716.5:c.1858+242A>C MANE Select	ENSP00000482760.1:n.1858+242A>C
ENST00000676494.1:n.744+242A>C
ENST00000676598.1:n.514+242A>C
ENST00000677364.1:c.826+242A>C	ENSP00000503544.1:n.826+242A>C
ENST00000677528.1:c.1858+242A>C	ENSP00000503660.1:n.1858+242A>C
ENST00000679007.1:n.909+242A>C
ENST00000331826.11:c.1858+242A>C	ENSP00000332052.8:n.1858+242A>C
ENST00000398185.6:c.1342+242A>C	ENSP00000381246.2:n.1342+242A>C
ENST00000557794.5:n.124-52449A>C
ENST00000558154.1:n.683A>C
ENST00000558951.5:c.67+242A>C	ENSP00000453771.1:n.67+242A>C
ENST00000559605.1:c.134+4381A>C
ENST00000560902.5:n.222+4381A>C
ENST00000611716.4:c.1858+242A>C	ENSP00000482760.1:n.1858+242A>C
ENST00000611967.4:c.1858+242A>C	ENSP00000477768.1:n.1858+242A>C
ENST00000615296.4:c.1858+242A>C	ENSP00000478081.1:n.1858+242A>C
ENST00000618548.4:c.1858+242A>C	ENSP00000479496.1:n.1858+242A>C
ENST00000619160.4:c.1858+242A>C	ENSP00000482831.1:n.1858+242A>C
ENST00000621185.4:c.291+242A>C
ENST00000622483.4:c.1858+242A>C	ENSP00000481556.1:n.1858+242A>C
NM_001291309.1:c.1636+242A>C	NP_001278238.1:n.1636+242A>C
NM_002570.4:c.1858+242A>C	NP_002561.1:n.1858+242A>C
NM_138319.3:c.1858+242A>C	NP_612192.1:n.1858+242A>C
NM_138323.2:c.1858+242A>C	NP_612196.1:n.1858+242A>C
NM_138324.2:c.1858+242A>C	NP_612197.1:n.1858+242A>C
NM_138325.3:c.1858+242A>C	NP_612198.2:n.1858+242A>C
NM_002570.5:c.1858+242A>C MANE Select	NP_002561.1:n.1858+242A>C
NM_001291309.2:c.1636+242A>C	NP_001278238.1:n.1636+242A>C
NM_138319.4:c.1858+242A>C	NP_612192.1:n.1858+242A>C
NM_138323.3:c.1858+242A>C	NP_612196.1:n.1858+242A>C
NM_138324.3:c.1858+242A>C	NP_612197.1:n.1858+242A>C
NM_138325.4:c.1858+242A>C	NP_612198.2:n.1858+242A>C