Canonical Allele Identifier: CA5087676

Gene: PCSK5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76310668T>C , CM000671.2:g.76310668T>C	GRCh38
NC_000009.11:g.78925584T>C , CM000671.1:g.78925584T>C	GRCh37
NC_000009.10:g.78115404T>C	NCBI36
NG_029445.1:g.425025T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001372043.1:c.3701T>C MANE Select	NP_001358972.1:p.Leu1234Pro
ENST00000674117.1:c.3701T>C MANE Select	ENSP00000500971.1:p.Leu1234Pro
NM_001190482.1:c.3620T>C	NP_001177411.1:p.Leu1207Pro
NM_001190482.2:c.3620T>C	NP_001177411.1:p.Leu1207Pro
ENST00000424854.6:c.2720T>C	ENSP00000411654.1:p.Leu907Pro
ENST00000545128.5:c.3620T>C	ENSP00000446280.1:p.Leu1207Pro
ENST00000673745.1:c.215T>C	ENSP00000501224.1:p.Leu72Pro
XM_005252039.2:c.3701T>C	XP_005252096.1:p.Leu1234Pro
XM_005252039.4:c.3701T>C	XP_005252096.1:p.Leu1234Pro
XM_011518769.1:c.3698T>C	XP_011517071.1:p.Leu1233Pro
XM_011518769.3:c.3698T>C	XP_011517071.1:p.Leu1233Pro
XM_011518770.1:c.2363T>C	XP_011517072.1:p.Leu788Pro
XM_011518770.2:c.2363T>C	XP_011517072.1:p.Leu788Pro
XM_017014800.1:c.2390T>C	XP_016870289.1:p.Leu797Pro