Canonical Allele Identifier: CA117889

Gene: RAB27A

Linked Data

• ClinVar Variation Id: 5986
• ClinVar RCV Id: RCV000006352
• dbSNP Id: rs104894498
• MyVariant Identifiers: chr15:g.55516165A>G (hg19) ; chr15:g.55223967A>G (hg38)
• PubMed: PMID:12531900

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55223967A>G , CM000677.2:g.55223967A>G	GRCh38
NC_000015.9:g.55516165A>G , CM000677.1:g.55516165A>G	GRCh37
NC_000015.8:g.53303457A>G	NCBI36
NG_009103.1:g.70837T>C , LRG_96:g.70837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697641.1:n.2425T>C
ENST00000697642.1:c.389T>C	ENSP00000513368.1:p.Leu130Pro
ENST00000697643.1:c.389T>C	ENSP00000513369.1:p.Leu130Pro
ENST00000697644.1:n.2557T>C
ENST00000336787.6:c.389T>C MANE Select	ENSP00000337761.1:p.Leu130Pro
ENST00000336787.5:c.389T>C	ENSP00000337761.1:p.Leu130Pro
ENST00000396307.6:c.389T>C	ENSP00000379601.2:p.Leu130Pro
ENST00000564609.5:c.389T>C	ENSP00000455012.1:p.Leu130Pro
ENST00000565972.5:c.389T>C	ENSP00000456536.1:p.Leu130Pro
ENST00000566877.5:c.389T>C	ENSP00000454695.1:p.Leu130Pro
ENST00000567380.5:c.389T>C	ENSP00000458127.1:p.Leu130Pro
ENST00000569493.5:c.389T>C	ENSP00000456059.1:p.Leu130Pro
NM_004580.4:c.389T>C	NP_004571.2:p.Leu130Pro
NM_183234.2:c.389T>C	NP_899057.1:p.Leu130Pro
NM_183235.2:c.389T>C	NP_899058.1:p.Leu130Pro
NM_183236.2:c.389T>C	NP_899059.1:p.Leu130Pro
XM_005254576.3:c.389T>C	XP_005254633.1:p.Leu130Pro
XM_011521852.1:c.389T>C	XP_011520154.1:p.Leu130Pro
XM_011521853.1:c.389T>C	XP_011520155.1:p.Leu130Pro
XM_011521854.1:c.389T>C	XP_011520156.1:p.Leu130Pro
XM_011521855.1:c.389T>C	XP_011520157.1:p.Leu130Pro
XM_011521856.1:c.389T>C	XP_011520158.1:p.Leu130Pro
XM_005254576.5:c.389T>C	XP_005254633.1:p.Leu130Pro
XM_011521855.3:c.389T>C	XP_011520157.1:p.Leu130Pro
XM_011521856.2:c.389T>C	XP_011520158.1:p.Leu130Pro
XM_024450009.1:c.389T>C	XP_024305777.1:p.Leu130Pro
NM_183235.3:c.389T>C MANE Select	NP_899058.1:p.Leu130Pro
NM_004580.5:c.389T>C	NP_004571.2:p.Leu130Pro
NM_183236.3:c.389T>C	NP_899059.1:p.Leu130Pro