Canonical Allele Identifier: CA377050556

Gene: JMJD1C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63215067A>G , CM000672.2:g.63215067A>G	GRCh38
NC_000010.10:g.64974827A>G , CM000672.1:g.64974827A>G	GRCh37
NC_000010.9:g.64644833A>G	NCBI36
NG_053187.1:g.312009T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032776.3:c.1100T>C MANE Select	NP_116165.1:p.Leu367Pro
ENST00000399262.7:c.1100T>C MANE Select	ENSP00000382204.2:p.Leu367Pro
NM_001282948.1:c.554T>C	NP_001269877.1:p.Leu185Pro
NM_001282948.2:c.554T>C	NP_001269877.1:p.Leu185Pro
NM_001318153.1:c.236T>C	NP_001305082.1:p.Leu79Pro
NM_001318153.2:c.236T>C	NP_001305082.1:p.Leu79Pro
NM_001318154.1:c.554T>C	NP_001305083.1:p.Leu185Pro
NM_001318154.2:c.554T>C	NP_001305083.1:p.Leu185Pro
NM_001322252.1:c.986T>C	NP_001309181.1:p.Leu329Pro
NM_001322252.2:c.986T>C	NP_001309181.1:p.Leu329Pro
NM_001322254.1:c.443T>C	NP_001309183.1:p.Leu148Pro
NM_001322254.2:c.443T>C	NP_001309183.1:p.Leu148Pro
NM_001322258.1:c.443T>C	NP_001309187.1:p.Leu148Pro
NM_001322258.2:c.443T>C	NP_001309187.1:p.Leu148Pro
NM_032776.2:c.1100T>C	NP_116165.1:p.Leu367Pro
NR_134512.1:n.1108T>C
NR_134512.2:n.1128T>C
ENST00000399262.6:c.1100T>C	ENSP00000382204.2:p.Leu367Pro
ENST00000402544.5:n.1072T>C
ENST00000542921.5:c.554T>C	ENSP00000444682.1:p.Leu185Pro
ENST00000639129.1:c.554T>C	ENSP00000491195.1:p.Leu185Pro
XM_005269624.2:c.443T>C	XP_005269681.1:p.Leu148Pro
XM_005269626.2:c.236T>C	XP_005269683.1:p.Leu79Pro
XM_011539502.1:c.479T>C	XP_011537804.1:p.Leu160Pro
XM_011539503.1:c.554T>C	XP_011537805.1:p.Leu185Pro
XM_011539504.1:c.554T>C	XP_011537806.1:p.Leu185Pro
XM_011539505.1:c.443T>C	XP_011537807.1:p.Leu148Pro
XM_011539506.1:c.236T>C	XP_011537808.1:p.Leu79Pro
XM_011539507.1:c.554T>C	XP_011537809.1:p.Leu185Pro
XM_011539508.1:c.554T>C	XP_011537810.1:p.Leu185Pro
XM_011539508.2:c.554T>C	XP_011537810.1:p.Leu185Pro
XM_017015897.1:c.554T>C	XP_016871386.1:p.Leu185Pro
XM_017015898.1:c.554T>C	XP_016871387.1:p.Leu185Pro
XM_017015899.1:c.236T>C	XP_016871388.1:p.Leu79Pro
XM_017015900.1:c.236T>C	XP_016871389.1:p.Leu79Pro
XM_017015901.1:c.236T>C	XP_016871390.1:p.Leu79Pro
XM_017015902.1:c.236T>C	XP_016871391.1:p.Leu79Pro
XM_017015903.1:c.236T>C	XP_016871392.1:p.Leu79Pro
XM_024447882.1:c.443T>C	XP_024303650.1:p.Leu148Pro
XM_024447883.1:c.443T>C	XP_024303651.1:p.Leu148Pro
XR_945628.1:n.932T>C
XR_945629.1:n.932T>C