Canonical Allele Identifier: CA373779638

Gene: PCSK5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76134162C>T , CM000671.2:g.76134162C>T	GRCh38
NC_000009.11:g.78749078C>T , CM000671.1:g.78749078C>T	GRCh37
NC_000009.10:g.77938898C>T	NCBI36
NG_029445.1:g.248519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376752.9:c.1262C>T	ENSP00000365943.4:p.Ala421Val
ENST00000674117.1:c.1262C>T MANE Select	ENSP00000500971.1:p.Ala421Val
ENST00000376752.8:c.1262C>T	ENSP00000365943.4:p.Ala421Val
ENST00000376767.7:c.1262C>T	ENSP00000365958.3:p.Ala421Val
ENST00000424854.6:c.281C>T	ENSP00000411654.1:p.Ala94Val
ENST00000545128.5:c.1262C>T	ENSP00000446280.1:p.Ala421Val
NM_001190482.1:c.1262C>T	NP_001177411.1:p.Ala421Val
NM_006200.5:c.1262C>T	NP_006191.2:p.Ala421Val
NR_120409.1:n.1747-22883C>T
XM_005252039.2:c.1262C>T	XP_005252096.1:p.Ala421Val
XM_011518769.1:c.1262C>T	XP_011517071.1:p.Ala421Val
XR_929806.1:n.1843C>T
XR_929807.1:n.1843C>T
XM_005252039.4:c.1262C>T	XP_005252096.1:p.Ala421Val
XM_011518769.3:c.1262C>T	XP_011517071.1:p.Ala421Val
XM_017014800.1:c.2-22883C>T	XP_016870289.1:n.2-22883C>T
XR_929806.2:n.1798C>T
XR_929807.2:n.1798C>T
NM_001372043.1:c.1262C>T MANE Select	NP_001358972.1:p.Ala421Val
NM_006200.6:c.1262C>T	NP_006191.2:p.Ala421Val
NR_120409.2:n.1718-22883C>T
NM_001190482.2:c.1262C>T	NP_001177411.1:p.Ala421Val