Canonical Allele Identifier: CA194335814

Gene: PCSK5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.76323287A>C , CM000671.2:g.76323287A>C	GRCh38
NC_000009.11:g.78938203A>C , CM000671.1:g.78938203A>C	GRCh37
NC_000009.10:g.78128023A>C	NCBI36
NG_029445.1:g.437644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674117.1:c.4338A>C MANE Select	ENSP00000500971.1:p.Arg1446Ser
ENST00000424854.6:c.3357A>C	ENSP00000411654.1:p.Arg1119Ser
ENST00000545128.5:c.4257A>C	ENSP00000446280.1:p.Arg1419Ser
NM_001190482.1:c.4257A>C	NP_001177411.1:p.Arg1419Ser
XM_005252039.2:c.4338A>C	XP_005252096.1:p.Arg1446Ser
XM_011518769.1:c.4335A>C	XP_011517071.1:p.Arg1445Ser
XM_011518770.1:c.3000A>C	XP_011517072.1:p.Arg1000Ser
XM_005252039.4:c.4338A>C	XP_005252096.1:p.Arg1446Ser
XM_011518769.3:c.4335A>C	XP_011517071.1:p.Arg1445Ser
XM_011518770.2:c.3000A>C	XP_011517072.1:p.Arg1000Ser
XM_017014800.1:c.3027A>C	XP_016870289.1:p.Arg1009Ser
NM_001372043.1:c.4338A>C MANE Select	NP_001358972.1:p.Arg1446Ser
NM_001190482.2:c.4257A>C	NP_001177411.1:p.Arg1419Ser