Canonical Allele Identifier: CA385729170

Gene: RAB3IP

Linked Data

• ClinVar Variation Id: 2238503
• ClinVar RCV Id: RCV004100766
• gnomAD v4: 12-69812970-T-C
• MyVariant Identifiers: chr12:g.70206750T>C (hg19) ; chr12:g.69812970T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69812970T>C , CM000674.2:g.69812970T>C	GRCh38
NC_000012.11:g.70206750T>C , CM000674.1:g.70206750T>C	GRCh37
NC_000012.10:g.68493017T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247833.12:c.1237T>C MANE Select	ENSP00000247833.7:p.Ser413Pro
ENST00000247833.11:c.1237T>C	ENSP00000247833.7:p.Ser413Pro
ENST00000362025.9:c.1185T>C	ENSP00000355381.5:p.Leu395=
ENST00000378809.8:c.*70T>C	ENSP00000368086.4:n.*70T>C
ENST00000417413.7:c.*80T>C	ENSP00000436304.2:n.*80T>C
ENST00000481897.1:n.926T>C
ENST00000483530.6:c.1137T>C	ENSP00000419216.2:p.Leu379=
ENST00000526994.6:c.518T>C
ENST00000550437.1:c.160T>C	ENSP00000454833.1:p.Ser54Pro
ENST00000550536.5:c.1285T>C	ENSP00000447300.1:p.Ser429Pro
ENST00000550847.1:c.358T>C	ENSP00000448102.1:p.Ser120Pro
ENST00000551641.5:c.619T>C	ENSP00000448773.1:p.Ser207Pro
ENST00000552199.5:c.*80T>C	ENSP00000448944.1:n.*80T>C
ENST00000552610.1:n.174T>C
ENST00000553099.5:c.619T>C	ENSP00000448027.1:p.Ser207Pro
NM_001024647.3:c.619T>C	NP_001019818.1:p.Ser207Pro
NM_001278402.1:c.619T>C	NP_001265331.1:p.Ser207Pro
NM_022456.4:c.1237T>C	NP_071901.2:p.Ser413Pro
NM_175623.3:c.1285T>C	NP_783322.1:p.Ser429Pro
NM_175624.3:c.1137T>C	NP_783323.1:p.Leu379=
NM_175625.3:c.1185T>C	NP_783324.1:p.Leu395=
NR_103519.1:n.1366T>C
NR_103520.1:n.1500T>C
XM_006719226.2:c.1237T>C	XP_006719289.2:p.Ser413Pro
XM_006719227.2:c.1137T>C	XP_006719290.2:p.Leu379=
XM_011537867.1:c.634T>C	XP_011536169.1:p.Ser212Pro
XR_944487.1:n.1220T>C
XR_944488.1:n.1333T>C
XR_944489.1:n.1233T>C
XR_944490.1:n.1225T>C
XR_944491.1:n.1505T>C
XR_944492.1:n.1096T>C
XM_006719226.3:c.1387T>C	XP_006719289.3:p.Ser463Pro
XM_006719227.3:c.1287T>C	XP_006719290.3:p.Leu429=
XM_017018773.1:c.1237T>C	XP_016874262.1:p.Ser413Pro
XM_017018774.2:c.634T>C	XP_016874263.1:p.Ser212Pro
XM_017018777.2:c.619T>C	XP_016874266.1:p.Ser207Pro
XM_024448832.1:c.634T>C	XP_024304600.1:p.Ser212Pro
XR_001748572.2:n.1429T>C
XR_944487.2:n.1286T>C
XR_944488.2:n.1399T>C
XR_944489.2:n.1299T>C
XR_944490.2:n.1291T>C
XR_944491.2:n.1571T>C
XR_944492.2:n.1162T>C
NM_022456.5:c.1237T>C MANE Select	NP_071901.2:p.Ser413Pro
NM_175623.4:c.1285T>C	NP_783322.1:p.Ser429Pro
NM_175624.4:c.1137T>C	NP_783323.1:p.Leu379=
NM_175625.4:c.1185T>C	NP_783324.1:p.Leu395=
NR_103519.2:n.1192T>C
NR_103520.2:n.1509T>C