Canonical Allele Identifier: CA1701097

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70960874G>T , CM000664.2:g.70960874G>T	GRCh38
NC_000002.11:g.71188004G>T , CM000664.1:g.71188004G>T	GRCh37
NC_000002.10:g.71041512G>T	NCBI36
NG_008016.1:g.30007G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.586-47G>T (ATP6V1B1) MANE Select	NP_001683.2:n.586-47G>T
ENST00000234396.10:c.586-47G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:n.586-47G>T
NM_001692.3:c.586-47G>T (ATP6V1B1)	NP_001683.2:n.586-47G>T
ENST00000234396.8:c.586-47G>T (ATP6V1B1)	ENSP00000234396.4:n.586-47G>T
ENST00000412314.5:c.586-47G>T (ATP6V1B1)	ENSP00000388353.1:n.586-47G>T
ENST00000432098.2:n.752-47G>T (ATP6V1B1)
ENST00000432367.5:c.586-47G>T (ATP6V1B1)	ENSP00000405114.1:n.586-47G>T
ENST00000432367.6:c.790-47G>T (VAX2)
ENST00000453130.1:c.143-12499C>A
ENST00000454446.5:c.637-47G>T (ATP6V1B1)	ENSP00000408361.1:n.637-47G>T
ENST00000454446.6:c.586-47G>T (ATP6V1B1)	ENSP00000408361.2:n.586-47G>T
ENST00000495118.1:n.141-47G>T (ATP6V1B1)
ENST00000606025.5:c.476-18441C>A	ENSP00000475641.1:n.476-18441C>A
ENST00000646783.1:c.622-47G>T (VAX2)
XM_011532907.1:c.706-47G>T (ATP6V1B1)	XP_011531209.1:n.706-47G>T
XM_011532907.2:c.706-47G>T (ATP6V1B1)	XP_011531209.1:n.706-47G>T