Canonical Allele Identifier: CA344439725

Gene: RAB29

Linked Data

• MyVariant Identifiers: chr1:g.205744033C>A (hg19) ; chr1:g.205774905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205774905C>A , CM000663.2:g.205774905C>A	GRCh38
NC_000001.10:g.205744033C>A , CM000663.1:g.205744033C>A	GRCh37
NC_000001.9:g.204010656C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367139.8:c.52G>T MANE Select	ENSP00000356107.3:p.Val18Leu
ENST00000235932.8:c.52G>T	ENSP00000235932.4:p.Val18Leu
ENST00000367139.7:c.52G>T	ENSP00000356107.3:p.Val18Leu
ENST00000414729.1:c.52G>T	ENSP00000402910.1:p.Val18Leu
ENST00000437324.6:c.-93+368G>T	ENSP00000416613.2:n.-93+368G>T
ENST00000446390.6:c.52G>T	ENSP00000389899.2:p.Val18Leu
ENST00000468887.1:n.168+368G>T
ENST00000492534.1:n.247G>T
ENST00000528078.1:c.52G>T	ENSP00000431483.1:p.Val18Leu
ENST00000533111.1:n.81+224G>T
NM_001135662.1:c.52G>T	NP_001129134.1:p.Val18Leu
NM_001135663.1:c.52G>T	NP_001129135.1:p.Val18Leu
NM_001135664.1:c.-93+368G>T	NP_001129136.1:n.-93+368G>T
NM_003929.2:c.52G>T	NP_003920.1:p.Val18Leu
XM_005245569.1:c.52G>T	XP_005245626.1:p.Val18Leu
XM_005245570.1:c.52G>T	XP_005245627.1:p.Val18Leu
XM_005245571.1:c.52G>T	XP_005245628.1:p.Val18Leu
XM_006711605.2:c.-93+469G>T	XP_006711668.1:n.-93+469G>T
XM_006711606.1:c.-93+497G>T	XP_006711669.1:n.-93+497G>T
XM_006711605.3:c.-93+469G>T	XP_006711668.1:n.-93+469G>T
XM_006711606.3:c.-93+497G>T	XP_006711669.1:n.-93+497G>T
XM_017002748.1:c.52G>T	XP_016858237.1:p.Val18Leu
XM_017002749.1:c.52G>T	XP_016858238.1:p.Val18Leu
XM_017002750.1:c.52G>T	XP_016858239.1:p.Val18Leu
NM_003929.3:c.52G>T MANE Select	NP_003920.1:p.Val18Leu
NM_001135662.2:c.52G>T	NP_001129134.1:p.Val18Leu
NM_001135663.2:c.52G>T	NP_001129135.1:p.Val18Leu
NM_001135664.2:c.-93+368G>T	NP_001129136.1:n.-93+368G>T