Canonical Allele Identifier: CA14113992

Gene: PCSK6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101314378A>G , CM000677.2:g.101314378A>G	GRCh38
NC_000015.9:g.101854583A>G , CM000677.1:g.101854583A>G	GRCh37
NC_000015.8:g.99672106A>G	NCBI36
NG_030047.3:g.215825T>C
NG_030047.4:g.215825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611716.5:c.2570-873T>C MANE Select	ENSP00000482760.1:n.2570-873T>C
ENST00000676598.1:n.1187-873T>C
ENST00000677364.1:c.1672-873T>C	ENSP00000503544.1:n.1672-873T>C
ENST00000677528.1:c.2530+3941T>C	ENSP00000503660.1:n.2530+3941T>C
ENST00000677962.1:n.4007-873T>C
ENST00000679007.1:n.1582-873T>C
ENST00000398185.6:c.2054-873T>C	ENSP00000381246.2:n.2054-873T>C
ENST00000557794.5:n.124-873T>C
ENST00000558433.5:n.73-873T>C
ENST00000558951.5:c.287-13509T>C	ENSP00000453771.1:n.287-13509T>C
ENST00000611716.4:c.2570-873T>C	ENSP00000482760.1:n.2570-873T>C
ENST00000618548.4:c.2531-873T>C	ENSP00000479496.1:n.2531-873T>C
ENST00000619160.4:c.2531-873T>C	ENSP00000482831.1:n.2531-873T>C
ENST00000622483.4:c.2570-873T>C	ENSP00000481556.1:n.2570-873T>C
ENST00000632686.1:c.587-873T>C	ENSP00000487813.1:n.587-873T>C
NM_001291309.1:c.2348-873T>C	NP_001278238.1:n.2348-873T>C
NM_002570.4:c.2570-873T>C	NP_002561.1:n.2570-873T>C
NM_138319.3:c.2531-873T>C	NP_612192.1:n.2531-873T>C
NM_002570.5:c.2570-873T>C MANE Select	NP_002561.1:n.2570-873T>C
NM_001291309.2:c.2348-873T>C	NP_001278238.1:n.2348-873T>C
NM_138319.4:c.2531-873T>C	NP_612192.1:n.2531-873T>C