Canonical Allele Identifier: CA347189547

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70965028G>T , CM000664.2:g.70965028G>T	GRCh38
NC_000002.11:g.71192158G>T , CM000664.1:g.71192158G>T	GRCh37
NC_000002.10:g.71045666G>T	NCBI36
NG_008016.1:g.34161G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1449G>T (ATP6V1B1) MANE Select	NP_001683.2:p.Lys483Asn
ENST00000234396.10:c.1449G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Lys483Asn
NM_001692.3:c.1449G>T (ATP6V1B1)	NP_001683.2:p.Lys483Asn
ENST00000234396.8:c.1449G>T (ATP6V1B1)	ENSP00000234396.4:p.Lys483Asn
ENST00000412314.5:c.1398G>T (ATP6V1B1)	ENSP00000388353.1:p.Lys466Asn
ENST00000432367.5:c.*727G>T (ATP6V1B1)	ENSP00000405114.1:n.*727G>T
ENST00000432367.6:c.1502G>T (VAX2)
ENST00000433895.1:c.264G>T (ATP6V1B1)	ENSP00000407840.1:p.Lys88Asn
ENST00000433895.2:c.381G>T (ATP6V1B1)	ENSP00000407840.2:p.Lys127Asn
ENST00000453130.1:c.143-16653C>A
ENST00000606025.5:c.476-22595C>A	ENSP00000475641.1:n.476-22595C>A
XM_011532907.1:c.1569G>T (ATP6V1B1)	XP_011531209.1:p.Lys523Asn
XM_011532907.2:c.1569G>T (ATP6V1B1)	XP_011531209.1:p.Lys523Asn