Canonical Allele Identifier: CA11557648

Gene: RUVBL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128115160G>A , CM000665.2:g.128115160G>A	GRCh38
NC_000003.11:g.127834003G>A , CM000665.1:g.127834003G>A	GRCh37
NC_000003.10:g.129316693G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322623.10:c.229-2140C>T MANE Select	ENSP00000318297.5:n.229-2140C>T
ENST00000322623.9:c.229-2140C>T	ENSP00000318297.5:n.229-2140C>T
ENST00000464873.5:c.49-2140C>T	ENSP00000420738.1:n.49-2140C>T
NM_003707.2:c.229-2140C>T	NP_003698.1:n.229-2140C>T
XM_005247841.2:c.49-2140C>T	XP_005247898.1:n.49-2140C>T
XM_011513248.1:c.229-2140C>T	XP_011511550.1:n.229-2140C>T
XM_011513249.1:c.229-2140C>T	XP_011511551.1:n.229-2140C>T
XM_011513250.1:c.49-2140C>T	XP_011511552.1:n.49-2140C>T
XR_924202.1:n.380-2140C>T
NM_001319084.1:c.229-2140C>T	NP_001306013.1:n.229-2140C>T
NM_001319086.1:c.49-2140C>T	NP_001306015.1:n.49-2140C>T
XM_005247841.4:c.49-2140C>T	XP_005247898.1:n.49-2140C>T
XM_011513248.2:c.229-2140C>T	XP_011511550.1:n.229-2140C>T
XM_011513249.3:c.229-2140C>T	XP_011511551.1:n.229-2140C>T
XM_017007356.2:c.229-2140C>T	XP_016862845.1:n.229-2140C>T
XM_017007357.2:c.49-2140C>T	XP_016862846.1:n.49-2140C>T
XR_924202.2:n.327-2140C>T
NM_001319084.2:c.229-2140C>T	NP_001306013.1:n.229-2140C>T
NM_003707.3:c.229-2140C>T MANE Select	NP_003698.1:n.229-2140C>T