Canonical Allele Identifier: CA60947443

Gene: PJVK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178458691G>T , CM000664.2:g.178458691G>T	GRCh38
NC_000002.11:g.179323418G>T , CM000664.1:g.179323418G>T	GRCh37
NC_000002.10:g.179031664G>T	NCBI36
NG_012186.1:g.12256G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042702.5:c.667+64G>T MANE Select	NP_001036167.1:n.667+64G>T
ENST00000644580.2:c.667+64G>T MANE Select	ENSP00000495855.2:n.667+64G>T
NM_001042702.3:c.667+64G>T	NP_001036167.1:n.667+64G>T
NM_001042702.4:c.667+64G>T	NP_001036167.1:n.667+64G>T
NM_001353775.1:c.676+64G>T	NP_001340704.1:n.676+64G>T
NM_001353775.2:c.676+64G>T	NP_001340704.1:n.676+64G>T
NM_001353776.1:c.772+64G>T	NP_001340705.1:n.772+64G>T
NM_001353776.2:c.772+64G>T	NP_001340705.1:n.772+64G>T
NM_001353777.1:c.190+64G>T	NP_001340706.1:n.190+64G>T
NM_001353778.1:c.190+64G>T	NP_001340707.1:n.190+64G>T
NM_001353778.2:c.190+64G>T	NP_001340707.1:n.190+64G>T
NM_001369912.1:c.667+64G>T	NP_001356841.1:n.667+64G>T
ENST00000375129.8:c.667+64G>T	ENSP00000364271.4:n.667+64G>T
ENST00000409117.7:c.667+64G>T	ENSP00000386647.3:n.667+64G>T
ENST00000437056.5:n.1537+64G>T
ENST00000442710.5:c.392-1657G>T
ENST00000444615.1:c.309+64G>T
ENST00000642192.1:c.190+64G>T	ENSP00000494225.1:n.190+64G>T
ENST00000642492.1:c.190+64G>T	ENSP00000496267.1:n.190+64G>T
ENST00000642762.1:c.94+64G>T	ENSP00000496028.1:n.94+64G>T
ENST00000643768.1:n.324+64G>T
ENST00000645572.1:c.667+64G>T	ENSP00000494301.1:n.667+64G>T
ENST00000645817.1:c.190+64G>T	ENSP00000495731.1:n.190+64G>T
ENST00000647226.1:c.190+64G>T	ENSP00000496024.1:n.190+64G>T
XM_005246627.1:c.676+64G>T	XP_005246684.1:n.676+64G>T
XM_005246628.2:c.772+64G>T	XP_005246685.1:n.772+64G>T
XM_005246629.2:c.658+64G>T	XP_005246686.1:n.658+64G>T
XM_005246629.4:c.658+64G>T	XP_005246686.1:n.658+64G>T
XM_011511247.1:c.772+64G>T	XP_011509549.1:n.772+64G>T
XM_011511247.3:c.772+64G>T	XP_011509549.1:n.772+64G>T
XM_011511248.1:c.736+64G>T	XP_011509550.1:n.736+64G>T
XM_011511249.1:c.190+64G>T	XP_011509551.1:n.190+64G>T
XM_011511249.3:c.190+64G>T	XP_011509551.1:n.190+64G>T
XM_011511250.1:c.190+64G>T	XP_011509552.1:n.190+64G>T
XM_011511251.1:c.190+64G>T	XP_011509553.1:n.190+64G>T
XM_017004221.2:c.772+64G>T	XP_016859710.1:n.772+64G>T
XM_017004224.2:c.190+64G>T	XP_016859713.1:n.190+64G>T
XM_024452927.1:c.190+64G>T	XP_024308695.1:n.190+64G>T
XM_024452928.1:c.190+64G>T	XP_024308696.1:n.190+64G>T
XR_001738753.2:n.2479+64G>T
XR_002959300.1:n.2479+64G>T
XR_922929.1:n.1439+64G>T
XR_922929.3:n.962+64G>T