Canonical Allele Identifier: CA2838252

Gene: JAKMIP1 C4orf50

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6062396G>C , CM000666.2:g.6062396G>C	GRCh38
NC_000004.11:g.6064123G>C , CM000666.1:g.6064123G>C	GRCh37
NC_000004.10:g.6115024G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001099433.2:c.1476C>G (JAKMIP1) MANE Select	NP_001092903.1:p.Thr492=
ENST00000409021.9:c.1476C>G (JAKMIP1) MANE Select	ENSP00000386711.3:p.Thr492=
NM_001099433.1:c.1476C>G (JAKMIP1)	NP_001092903.1:p.Thr492=
NM_001306133.1:c.1476C>G (JAKMIP1)	NP_001293062.1:p.Thr492=
NM_001306133.2:c.1476C>G (JAKMIP1)	NP_001293062.1:p.Thr492=
NM_001306134.1:c.981C>G (JAKMIP1)	NP_001293063.1:p.Thr327=
NM_001306134.2:c.981C>G (JAKMIP1)	NP_001293063.1:p.Thr327=
NM_144720.3:c.1476C>G (JAKMIP1)	NP_653321.1:p.Thr492=
NM_144720.4:c.1476C>G (JAKMIP1)	NP_653321.1:p.Thr492=
ENST00000282924.9:c.1476C>G (JAKMIP1)	ENSP00000282924.5:p.Thr492=
ENST00000409021.7:c.1476C>G (JAKMIP1)	ENSP00000386711.3:p.Thr492=
ENST00000409371.7:c.921C>G (JAKMIP1)	ENSP00000387042.3:p.Thr307=
ENST00000409371.8:c.921C>G (JAKMIP1)	ENSP00000387042.3:p.Thr307=
ENST00000409831.5:c.1476C>G (JAKMIP1)	ENSP00000386925.1:p.Thr492=
ENST00000410077.2:c.981C>G (JAKMIP1)	ENSP00000386745.2:p.Thr327=
ENST00000457227.2:n.1036C>G (JAKMIP1)
ENST00000473053.5:c.1476C>G (JAKMIP1)	ENSP00000422004.1:p.Thr492=
ENST00000531445.3:c.-3471C>G (C4orf50)	ENSP00000437121.2:n.-3471C>G
ENST00000637373.2:c.180C>G (JAKMIP1)	ENSP00000490067.1:p.Thr60=
ENST00000700566.1:n.1737C>G (JAKMIP1)
ENST00000700568.1:n.1556C>G (JAKMIP1)
ENST00000700569.1:c.1437C>G (JAKMIP1)	ENSP00000515067.1:p.Thr479=
ENST00000700570.1:c.1473C>G (JAKMIP1)	ENSP00000515068.1:p.Thr491=
ENST00000700571.1:c.1347C>G (JAKMIP1)	ENSP00000515069.1:p.Thr449=
ENST00000700572.1:c.1416C>G (JAKMIP1)	ENSP00000515070.1:p.Thr472=
ENST00000700573.1:c.1437C>G (JAKMIP1)	ENSP00000515071.1:p.Thr479=
ENST00000700574.1:n.4355C>G (JAKMIP1)
ENST00000700575.1:c.1476C>G (JAKMIP1)	ENSP00000515072.1:p.Thr492=
ENST00000700576.1:n.1916C>G (JAKMIP1)
ENST00000700577.1:n.1916C>G (JAKMIP1)
XM_011513400.1:c.981C>G (JAKMIP1)	XP_011511702.1:p.Thr327=
XM_011513400.2:c.981C>G (JAKMIP1)	XP_011511702.1:p.Thr327=
XM_017007788.1:c.1476C>G (JAKMIP1)	XP_016863277.1:p.Thr492=
XM_017007789.1:c.1476C>G (JAKMIP1)	XP_016863278.1:p.Thr492=
XM_017007790.1:c.1476C>G (JAKMIP1)	XP_016863279.1:p.Thr492=
XM_017007791.1:c.1476C>G (JAKMIP1)	XP_016863280.1:p.Thr492=
XM_017007792.1:c.1476C>G (JAKMIP1)	XP_016863281.1:p.Thr492=
XM_017007793.1:c.1476C>G (JAKMIP1)	XP_016863282.1:p.Thr492=
XM_017007794.1:c.1476C>G (JAKMIP1)	XP_016863283.1:p.Thr492=
XM_017007795.1:c.1476C>G (JAKMIP1)	XP_016863284.1:p.Thr492=
XM_017007796.1:c.1476C>G (JAKMIP1)	XP_016863285.1:p.Thr492=
XM_017007797.1:c.981C>G (JAKMIP1)	XP_016863286.1:p.Thr327=
XM_017007798.1:c.981C>G (JAKMIP1)	XP_016863287.1:p.Thr327=
XM_017007799.1:c.981C>G (JAKMIP1)	XP_016863288.1:p.Thr327=
XM_024453911.1:c.1476C>G (JAKMIP1)	XP_024309679.1:p.Thr492=