Canonical Allele Identifier: CA385729013

Gene: RAB3IP

Linked Data

• ClinVar Variation Id: 2239413
• ClinVar RCV Id: RCV004105077
• MyVariant Identifiers: chr12:g.70206635T>G (hg19) ; chr12:g.69812855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69812855T>G , CM000674.2:g.69812855T>G	GRCh38
NC_000012.11:g.70206635T>G , CM000674.1:g.70206635T>G	GRCh37
NC_000012.10:g.68492902T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247833.12:c.1208T>G MANE Select	ENSP00000247833.7:p.Ile403Ser
ENST00000247833.11:c.1208T>G	ENSP00000247833.7:p.Ile403Ser
ENST00000362025.9:c.1179-109T>G	ENSP00000355381.5:n.1179-109T>G
ENST00000378809.8:c.*64-109T>G	ENSP00000368086.4:n.*64-109T>G
ENST00000417413.7:c.*51T>G	ENSP00000436304.2:n.*51T>G
ENST00000481897.1:n.811T>G
ENST00000483530.6:c.1131-109T>G	ENSP00000419216.2:n.1131-109T>G
ENST00000526994.6:c.403T>G
ENST00000550437.1:c.131T>G	ENSP00000454833.1:p.Ile44Ser
ENST00000550536.5:c.1256T>G	ENSP00000447300.1:p.Ile419Ser
ENST00000550847.1:c.329T>G	ENSP00000448102.1:p.Ile110Ser
ENST00000551641.5:c.590T>G	ENSP00000448773.1:p.Ile197Ser
ENST00000552199.5:c.*51T>G	ENSP00000448944.1:n.*51T>G
ENST00000552610.1:n.145T>G
ENST00000553099.5:c.590T>G	ENSP00000448027.1:p.Ile197Ser
NM_001024647.3:c.590T>G	NP_001019818.1:p.Ile197Ser
NM_001278402.1:c.590T>G	NP_001265331.1:p.Ile197Ser
NM_022456.4:c.1208T>G	NP_071901.2:p.Ile403Ser
NM_175623.3:c.1256T>G	NP_783322.1:p.Ile419Ser
NM_175624.3:c.1131-109T>G	NP_783323.1:n.1131-109T>G
NM_175625.3:c.1179-109T>G	NP_783324.1:n.1179-109T>G
NR_103519.1:n.1337T>G
NR_103520.1:n.1471T>G
XM_006719226.2:c.1208T>G	XP_006719289.2:p.Ile403Ser
XM_006719227.2:c.1131-109T>G	XP_006719290.2:n.1131-109T>G
XM_011537867.1:c.605T>G	XP_011536169.1:p.Ile202Ser
XR_944487.1:n.1191T>G
XR_944488.1:n.1304T>G
XR_944489.1:n.1227-109T>G
XR_944490.1:n.1196T>G
XR_944491.1:n.1476T>G
XR_944492.1:n.1067T>G
XM_006719226.3:c.1358T>G	XP_006719289.3:p.Ile453Ser
XM_006719227.3:c.1281-109T>G	XP_006719290.3:n.1281-109T>G
XM_017018773.1:c.1208T>G	XP_016874262.1:p.Ile403Ser
XM_017018774.2:c.605T>G	XP_016874263.1:p.Ile202Ser
XM_017018777.2:c.590T>G	XP_016874266.1:p.Ile197Ser
XM_024448832.1:c.605T>G	XP_024304600.1:p.Ile202Ser
XR_001748572.2:n.1400T>G
XR_944487.2:n.1257T>G
XR_944488.2:n.1370T>G
XR_944489.2:n.1293-109T>G
XR_944490.2:n.1262T>G
XR_944491.2:n.1542T>G
XR_944492.2:n.1133T>G
NM_022456.5:c.1208T>G MANE Select	NP_071901.2:p.Ile403Ser
NM_175623.4:c.1256T>G	NP_783322.1:p.Ile419Ser
NM_175624.4:c.1131-109T>G	NP_783323.1:n.1131-109T>G
NM_175625.4:c.1179-109T>G	NP_783324.1:n.1179-109T>G
NR_103519.2:n.1163T>G
NR_103520.2:n.1480T>G