Canonical Allele Identifier: CA219656

Gene: RAB7A

Linked Data

• ClinVar Variation Id: 7345
• ClinVar RCV Id: RCV000007770 ; RCV000059221 ; RCV000789555
• dbSNP Id: rs121909078
• MyVariant Identifiers: chr3:g.128525419C>T (hg19) ; chr3:g.128806576C>T (hg38)
• PubMed: PMID:10636124 ; PMID:11094113 ; PMID:12545426

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128806576C>T , CM000665.2:g.128806576C>T	GRCh38
NC_000003.11:g.128525419C>T , CM000665.1:g.128525419C>T	GRCh37
NC_000003.10:g.130008109C>T	NCBI36
NG_008070.1:g.85441C>T , LRG_266:g.85441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265062.8:c.385C>T MANE Select	ENSP00000265062.3:p.Leu129Phe
ENST00000490093.6:c.385C>T	ENSP00000418955.2:p.Leu129Phe
ENST00000493186.6:c.148-1042C>T	ENSP00000417189.1:n.148-1042C>T
ENST00000674589.1:c.385C>T	ENSP00000502088.1:p.Leu129Phe
ENST00000674593.1:n.383C>T
ENST00000674748.1:c.313C>T	ENSP00000502224.1:p.Leu105Phe
ENST00000675342.1:c.385C>T	ENSP00000502486.1:p.Leu129Phe
ENST00000675497.1:c.385C>T	ENSP00000502000.1:p.Leu129Phe
ENST00000675712.1:n.617C>T
ENST00000675864.1:c.385C>T	ENSP00000502566.1:p.Leu129Phe
ENST00000676147.1:c.465C>T
ENST00000676214.1:c.385C>T	ENSP00000501618.1:p.Leu129Phe
ENST00000676425.1:c.385C>T	ENSP00000502084.1:p.Leu129Phe
ENST00000265062.7:c.385C>T	ENSP00000265062.3:p.Leu129Phe
ENST00000464496.5:c.385C>T	ENSP00000417978.1:p.Leu129Phe
ENST00000482525.5:c.258+127C>T	ENSP00000417668.1:n.258+127C>T
ENST00000483906.5:c.181-967C>T	ENSP00000417155.1:n.181-967C>T
ENST00000485280.1:c.181-6751C>T	ENSP00000418283.1:n.181-6751C>T
ENST00000490093.5:c.284+101C>T	ENSP00000418955.1:n.284+101C>T
ENST00000493186.5:c.148-1042C>T	ENSP00000417189.1:n.148-1042C>T
NM_004637.5:c.385C>T , LRG_266t1:c.385C>T	NP_004628.4:p.Leu129Phe
XM_024453745.1:c.385C>T	XP_024309513.1:p.Leu129Phe
XR_002959582.1:n.617C>T
XR_002959583.1:n.545C>T
NM_004637.6:c.385C>T MANE Select	NP_004628.4:p.Leu129Phe