Canonical Allele Identifier: CA133776

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964785T>C , CM000664.2:g.70964785T>C	GRCh38
NC_000002.11:g.71191915T>C , CM000664.1:g.71191915T>C	GRCh37
NC_000002.10:g.71045423T>C	NCBI36
NG_008016.1:g.33918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.1298T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Val433Ala
ENST00000432367.6:c.1351T>C (VAX2)
ENST00000433895.2:c.230T>C (ATP6V1B1)	ENSP00000407840.2:p.Val77Ala
ENST00000234396.8:c.1298T>C (ATP6V1B1)	ENSP00000234396.4:p.Val433Ala
ENST00000412314.5:c.1247T>C (ATP6V1B1)	ENSP00000388353.1:p.Val416Ala
ENST00000432367.5:c.*576T>C (ATP6V1B1)	ENSP00000405114.1:n.*576T>C
ENST00000433895.1:c.113T>C (ATP6V1B1)	ENSP00000407840.1:p.Val38Ala
ENST00000453130.1:c.143-16410A>G
ENST00000606025.5:c.476-22352A>G	ENSP00000475641.1:n.476-22352A>G
NM_001692.3:c.1298T>C (ATP6V1B1)	NP_001683.2:p.Val433Ala
XM_011532907.1:c.1418T>C (ATP6V1B1)	XP_011531209.1:p.Val473Ala
NM_001692.4:c.1298T>C (ATP6V1B1) MANE Select	NP_001683.2:p.Val433Ala
XM_011532907.2:c.1418T>C (ATP6V1B1)	XP_011531209.1:p.Val473Ala