Canonical Allele Identifier: CA392529545

Gene: RAB27A

Linked Data

• ClinVar Variation Id: 1504505
• ClinVar RCV Id: RCV002028843
• dbSNP Id: rs1197622697
• gnomAD v2: 15-55516109-T-C
• gnomAD v4: 15-55223911-T-C
• COSMIC: COSM6142659
• MyVariant Identifiers: chr15:g.55516109T>C (hg19) ; chr15:g.55223911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55223911T>C , CM000677.2:g.55223911T>C	GRCh38
NC_000015.9:g.55516109T>C , CM000677.1:g.55516109T>C	GRCh37
NC_000015.8:g.53303401T>C	NCBI36
NG_009103.1:g.70893A>G , LRG_96:g.70893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697641.1:n.2481A>G
ENST00000697642.1:c.445A>G	ENSP00000513368.1:p.Ile149Val
ENST00000697643.1:c.445A>G	ENSP00000513369.1:p.Ile149Val
ENST00000697644.1:n.2613A>G
ENST00000336787.6:c.445A>G MANE Select	ENSP00000337761.1:p.Ile149Val
ENST00000336787.5:c.445A>G	ENSP00000337761.1:p.Ile149Val
ENST00000396307.6:c.445A>G	ENSP00000379601.2:p.Ile149Val
ENST00000564609.5:c.445A>G	ENSP00000455012.1:p.Ile149Val
ENST00000566877.5:c.445A>G	ENSP00000454695.1:p.Ile149Val
ENST00000569493.5:c.445A>G	ENSP00000456059.1:p.Ile149Val
NM_004580.4:c.445A>G	NP_004571.2:p.Ile149Val
NM_183234.2:c.445A>G	NP_899057.1:p.Ile149Val
NM_183235.2:c.445A>G	NP_899058.1:p.Ile149Val
NM_183236.2:c.445A>G	NP_899059.1:p.Ile149Val
XM_005254576.3:c.445A>G	XP_005254633.1:p.Ile149Val
XM_011521852.1:c.445A>G	XP_011520154.1:p.Ile149Val
XM_011521853.1:c.445A>G	XP_011520155.1:p.Ile149Val
XM_011521854.1:c.445A>G	XP_011520156.1:p.Ile149Val
XM_011521855.1:c.445A>G	XP_011520157.1:p.Ile149Val
XM_011521856.1:c.445A>G	XP_011520158.1:p.Ile149Val
XM_005254576.5:c.445A>G	XP_005254633.1:p.Ile149Val
XM_011521855.3:c.445A>G	XP_011520157.1:p.Ile149Val
XM_011521856.2:c.445A>G	XP_011520158.1:p.Ile149Val
XM_024450009.1:c.445A>G	XP_024305777.1:p.Ile149Val
NM_183235.3:c.445A>G MANE Select	NP_899058.1:p.Ile149Val
NM_004580.5:c.445A>G	NP_004571.2:p.Ile149Val
NM_183236.3:c.445A>G	NP_899059.1:p.Ile149Val