Canonical Allele Identifier: CA1701173

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70962797C>T , CM000664.2:g.70962797C>T	GRCh38
NC_000002.11:g.71189927C>T , CM000664.1:g.71189927C>T	GRCh37
NC_000002.10:g.71043435C>T	NCBI36
NG_008016.1:g.31930C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.806C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Pro269Leu
ENST00000234396.10:c.806C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Pro269Leu
NM_001692.3:c.806C>T (ATP6V1B1)	NP_001683.2:p.Pro269Leu
ENST00000234396.8:c.806C>T (ATP6V1B1)	ENSP00000234396.4:p.Pro269Leu
ENST00000412314.5:c.806C>T (ATP6V1B1)	ENSP00000388353.1:p.Pro269Leu
ENST00000432367.5:c.*84C>T (ATP6V1B1)	ENSP00000405114.1:n.*84C>T
ENST00000432367.6:c.1010C>T (VAX2)
ENST00000453130.1:c.143-14422G>A
ENST00000454446.6:c.827C>T (ATP6V1B1)	ENSP00000408361.2:p.Pro276Leu
ENST00000606025.5:c.476-20364G>A	ENSP00000475641.1:n.476-20364G>A
ENST00000646783.1:c.842C>T (VAX2)
XM_011532907.1:c.926C>T (ATP6V1B1)	XP_011531209.1:p.Pro309Leu
XM_011532907.2:c.926C>T (ATP6V1B1)	XP_011531209.1:p.Pro309Leu