Canonical Allele Identifier: CA355660530

Gene: RUBCN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.197694417T>G , CM000665.2:g.197694417T>G	GRCh38
NC_000003.11:g.197421288T>G , CM000665.1:g.197421288T>G	GRCh37
NC_000003.10:g.198905685T>G	NCBI36
NG_034153.1:g.60283A>C
NG_034153.2:g.60283A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014687.4:c.1642A>C MANE Select	NP_055502.1:p.Thr548Pro
ENST00000296343.10:c.1642A>C MANE Select	ENSP00000296343.5:p.Thr548Pro
NM_001145642.3:c.1507A>C	NP_001139114.1:p.Thr503Pro
NM_001145642.4:c.1507A>C	NP_001139114.1:p.Thr503Pro
NM_001145642.5:c.1507A>C	NP_001139114.1:p.Thr503Pro
NM_001346873.1:c.1684A>C	NP_001333802.1:p.Thr562Pro
NM_001346873.2:c.1684A>C	NP_001333802.1:p.Thr562Pro
NM_014687.2:c.1642A>C	NP_055502.1:p.Thr548Pro
NM_014687.3:c.1642A>C	NP_055502.1:p.Thr548Pro
ENST00000273582.9:c.1507A>C	ENSP00000273582.5:p.Thr503Pro
ENST00000296343.9:c.1642A>C	ENSP00000296343.5:p.Thr548Pro
ENST00000413360.5:c.1526A>C
ENST00000415452.5:c.918A>C
ENST00000447048.1:c.442A>C
ENST00000707076.1:c.1684A>C	ENSP00000516727.1:p.Thr562Pro
XM_005269374.2:c.1687A>C	XP_005269431.1:p.Thr563Pro
XM_005269374.3:c.1687A>C	XP_005269431.1:p.Thr563Pro
XM_006713827.2:c.1687A>C	XP_006713890.1:p.Thr563Pro
XM_006713827.3:c.1687A>C	XP_006713890.1:p.Thr563Pro
XM_006713828.2:c.1642A>C	XP_006713891.1:p.Thr548Pro
XM_006713828.3:c.1642A>C	XP_006713891.1:p.Thr548Pro
XM_006713829.2:c.1507A>C	XP_006713892.1:p.Thr503Pro
XM_006713829.4:c.1507A>C	XP_006713892.1:p.Thr503Pro
XM_006713830.2:c.1186A>C	XP_006713893.1:p.Thr396Pro
XM_006713830.3:c.1186A>C	XP_006713893.1:p.Thr396Pro
XM_006713831.2:c.1186A>C	XP_006713894.1:p.Thr396Pro
XM_006713831.4:c.1186A>C	XP_006713894.1:p.Thr396Pro
XM_017007543.1:c.1141A>C	XP_016863032.1:p.Thr381Pro
XM_017007544.1:c.1186A>C	XP_016863033.1:p.Thr396Pro
XM_017007545.2:c.1186A>C	XP_016863034.1:p.Thr396Pro
XM_024453838.1:c.1141A>C	XP_024309606.1:p.Thr381Pro