Canonical Allele Identifier: CA1703472854
Gene: BLVRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43788047C= , CM000669.2:g.43788047C= GRCh38
NC_000007.13:g.43827646C= , CM000669.1:g.43827646C= GRCh37
NC_000007.12:g.43794171C= NCBI36
NG_031876.1:g.34375C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.134+22C= MANE Select ENSP00000265523.4:n.134+22C=
ENST00000265523.8:c.134+22C= ENSP00000265523.4:n.134+22C=
ENST00000402924.5:c.134+22C= ENSP00000385757.1:n.134+22C=
ENST00000424330.1:c.134+22C= ENSP00000412005.1:n.134+22C=
ENST00000453612.1:n.158+22C=
NM_000712.3:c.134+22C= NP_000703.2:n.134+22C=
NM_001253823.1:c.134+22C= NP_001240752.1:n.134+22C=
XM_011515474.1:c.134+22C= XP_011513776.1:n.134+22C=
XR_428136.2:n.265-2289G=
XR_927212.1:n.265-2289G=
XR_927213.1:n.265-2289G=
XM_011515474.3:c.134+22C= XP_011513776.1:n.134+22C=
XM_017012520.2:c.134+22C= XP_016868009.1:n.134+22C=
XM_024446867.1:c.134+22C= XP_024302635.1:n.134+22C=
XR_001745190.1:n.266-2289G=
NM_000712.4:c.134+22C= MANE Select NP_000703.2:n.134+22C=
NM_001253823.2:c.134+22C= NP_001240752.1:n.134+22C=