Canonical Allele Identifier: CA2838024

Gene: JAKMIP1 C4orf50

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6036057C>T , CM000666.2:g.6036057C>T	GRCh38
NC_000004.11:g.6037784C>T , CM000666.1:g.6037784C>T	GRCh37
NC_000004.10:g.6088685C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001099433.2:c.2226G>A (JAKMIP1) MANE Select	NP_001092903.1:p.Pro742=
ENST00000409021.9:c.2226G>A (JAKMIP1) MANE Select	ENSP00000386711.3:p.Pro742=
NM_001099433.1:c.2226G>A (JAKMIP1)	NP_001092903.1:p.Pro742=
ENST00000409021.7:c.2226G>A (JAKMIP1)	ENSP00000386711.3:p.Pro742=
ENST00000409371.7:c.1671G>A (JAKMIP1)	ENSP00000387042.3:p.Pro557=
ENST00000409371.8:c.1671G>A (JAKMIP1)	ENSP00000387042.3:p.Pro557=
ENST00000531445.3:c.-2721G>A (C4orf50)	ENSP00000437121.2:n.-2721G>A
ENST00000637373.2:c.930G>A (JAKMIP1)	ENSP00000490067.1:p.Pro310=
XM_017007788.1:c.2238G>A (JAKMIP1)	XP_016863277.1:p.Pro746=
XM_017007789.1:c.2238G>A (JAKMIP1)	XP_016863278.1:p.Pro746=
XM_017007790.1:c.2238G>A (JAKMIP1)	XP_016863279.1:p.Pro746=
XM_017007791.1:c.2226G>A (JAKMIP1)	XP_016863280.1:p.Pro742=
XM_017007792.1:c.2238G>A (JAKMIP1)	XP_016863281.1:p.Pro746=
XM_017007793.1:c.2226G>A (JAKMIP1)	XP_016863282.1:p.Pro742=
XM_017007794.1:c.2238G>A (JAKMIP1)	XP_016863283.1:p.Pro746=
XM_017007795.1:c.2172G>A (JAKMIP1)	XP_016863284.1:p.Pro724=
XM_017007797.1:c.1743G>A (JAKMIP1)	XP_016863286.1:p.Pro581=
XM_017007798.1:c.1743G>A (JAKMIP1)	XP_016863287.1:p.Pro581=
XM_017007799.1:c.1731G>A (JAKMIP1)	XP_016863288.1:p.Pro577=