Canonical Allele Identifier: CA6682224

Gene: RAB3IP

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69815405A>C , CM000674.2:g.69815405A>C	GRCh38
NC_000012.11:g.70209185A>C , CM000674.1:g.70209185A>C	GRCh37
NC_000012.10:g.68495452A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022456.5:c.1342A>C MANE Select	NP_071901.2:p.Met448Leu
ENST00000247833.12:c.1342A>C MANE Select	ENSP00000247833.7:p.Met448Leu
NM_001024647.3:c.724A>C	NP_001019818.1:p.Met242Leu
NM_001278402.1:c.724A>C	NP_001265331.1:p.Met242Leu
NM_022456.4:c.1342A>C	NP_071901.2:p.Met448Leu
NM_175623.3:c.1390A>C	NP_783322.1:p.Met464Leu
NM_175623.4:c.1390A>C	NP_783322.1:p.Met464Leu
NM_175624.3:c.*54A>C	NP_783323.1:n.*54A>C
NM_175624.4:c.*54A>C	NP_783323.1:n.*54A>C
NM_175625.3:c.*54A>C	NP_783324.1:n.*54A>C
NM_175625.4:c.*54A>C	NP_783324.1:n.*54A>C
NR_103519.1:n.1471A>C
NR_103519.2:n.1297A>C
NR_103520.1:n.1605A>C
NR_103520.2:n.1614A>C
ENST00000247833.11:c.1342A>C	ENSP00000247833.7:p.Met448Leu
ENST00000362025.9:c.*54A>C	ENSP00000355381.5:n.*54A>C
ENST00000378809.8:c.*175A>C	ENSP00000368086.4:n.*175A>C
ENST00000417413.7:c.*185A>C	ENSP00000436304.2:n.*185A>C
ENST00000481897.1:n.1031A>C
ENST00000483530.6:c.*54A>C	ENSP00000419216.2:n.*54A>C
ENST00000526994.6:c.623A>C
ENST00000550437.1:c.223+2372A>C	ENSP00000454833.1:n.223+2372A>C
ENST00000550536.5:c.1390A>C	ENSP00000447300.1:p.Met464Leu
ENST00000550847.1:c.463A>C	ENSP00000448102.1:p.Met155Leu
ENST00000551641.5:c.724A>C	ENSP00000448773.1:p.Met242Leu
ENST00000552199.5:c.*185A>C	ENSP00000448944.1:n.*185A>C
ENST00000552610.1:n.279A>C
ENST00000553099.5:c.724A>C	ENSP00000448027.1:p.Met242Leu
XM_006719226.2:c.1342A>C	XP_006719289.2:p.Met448Leu
XM_006719226.3:c.1492A>C	XP_006719289.3:p.Met498Leu
XM_006719227.2:c.*54A>C	XP_006719290.2:n.*54A>C
XM_006719227.3:c.*54A>C	XP_006719290.3:n.*54A>C
XM_011537867.1:c.739A>C	XP_011536169.1:p.Met247Leu
XM_017018773.1:c.1342A>C	XP_016874262.1:p.Met448Leu
XM_017018774.2:c.739A>C	XP_016874263.1:p.Met247Leu
XM_017018777.2:c.724A>C	XP_016874266.1:p.Met242Leu
XM_024448832.1:c.739A>C	XP_024304600.1:p.Met247Leu
XR_001748572.2:n.1534A>C
XR_944487.1:n.1325A>C
XR_944487.2:n.1391A>C
XR_944488.1:n.1438A>C
XR_944488.2:n.1504A>C
XR_944489.1:n.1338A>C
XR_944489.2:n.1404A>C
XR_944490.1:n.1330A>C
XR_944490.2:n.1396A>C
XR_944491.1:n.1610A>C
XR_944491.2:n.1676A>C
XR_944492.1:n.1201A>C
XR_944492.2:n.1267A>C