Canonical Allele Identifier: CA1884811

Gene: RAB3GAP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135132991T>C , CM000664.2:g.135132991T>C	GRCh38
NC_000002.11:g.135890561T>C , CM000664.1:g.135890561T>C	GRCh37
NC_000002.10:g.135607031T>C	NCBI36
NG_016972.1:g.85727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1326+7T>C	ENSP00000444306.2:n.1326+7T>C
ENST00000685967.1:c.*783+7T>C	ENSP00000508423.1:n.*783+7T>C
ENST00000686114.1:n.1672+7T>C
ENST00000687199.1:c.*1394+7T>C	ENSP00000510319.1:n.*1394+7T>C
ENST00000688088.1:n.1345+7T>C
ENST00000688182.1:c.151-34702T>C	ENSP00000509324.1:n.151-34702T>C
ENST00000689880.1:n.1345+7T>C
ENST00000690208.1:c.*1004+7T>C	ENSP00000510746.1:n.*1004+7T>C
ENST00000690785.1:n.1345+7T>C
ENST00000691339.1:c.*949+7T>C	ENSP00000509953.1:n.*949+7T>C
ENST00000691478.1:c.*1425+7T>C	ENSP00000509081.1:n.*1425+7T>C
ENST00000693554.1:c.1326+7T>C	ENSP00000509030.1:n.1326+7T>C
ENST00000264158.13:c.1326+7T>C MANE Select	ENSP00000264158.8:n.1326+7T>C
ENST00000264158.12:c.1326+7T>C	ENSP00000264158.7:n.1326+7T>C
ENST00000442034.5:c.1326+7T>C	ENSP00000411418.1:n.1326+7T>C
ENST00000487003.5:n.1395+7T>C
ENST00000539493.2:c.1194+7T>C	ENSP00000444306.1:n.1194+7T>C
NM_001172435.1:c.1326+7T>C	NP_001165906.1:n.1326+7T>C
NM_012233.2:c.1326+7T>C	NP_036365.1:n.1326+7T>C
XM_011510822.1:c.1326+7T>C	XP_011509124.1:n.1326+7T>C
XM_011510823.1:c.1326+7T>C	XP_011509125.1:n.1326+7T>C
XM_011510824.1:c.1326+7T>C	XP_011509126.1:n.1326+7T>C
XM_011510825.1:c.1326+7T>C	XP_011509127.1:n.1326+7T>C
XM_011510823.3:c.1326+7T>C	XP_011509125.1:n.1326+7T>C
XM_011510825.3:c.1326+7T>C	XP_011509127.1:n.1326+7T>C
XR_001738674.2:n.1353+7T>C
NM_001172435.2:c.1326+7T>C	NP_001165906.1:n.1326+7T>C
NM_012233.3:c.1326+7T>C MANE Select	NP_036365.1:n.1326+7T>C