Canonical Allele Identifier: CA343108817

Gene: ATP1B1

Linked Data

• ClinVar Variation Id: 2486528
• ClinVar RCV Id: RCV004273154
• gnomAD v4: 1-169130053-A-G
• MyVariant Identifiers: chr1:g.169099291A>G (hg19) ; chr1:g.169130053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169130053A>G , CM000663.2:g.169130053A>G	GRCh38
NC_000001.10:g.169099291A>G , CM000663.1:g.169099291A>G	GRCh37
NC_000001.9:g.167365915A>G	NCBI36
NG_023230.1:g.28345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494797.2:c.443A>G	ENSP00000477015.2:p.Tyr148Cys
ENST00000685155.1:c.443A>G	ENSP00000508678.1:p.Tyr148Cys
ENST00000685762.1:c.443A>G	ENSP00000508918.1:p.Tyr148Cys
ENST00000685792.1:c.443A>G	ENSP00000508616.1:p.Tyr148Cys
ENST00000686702.1:c.443A>G	ENSP00000509060.1:p.Tyr148Cys
ENST00000687013.1:n.4961A>G
ENST00000687182.1:n.458A>G
ENST00000687745.1:c.443A>G	ENSP00000509323.1:p.Tyr148Cys
ENST00000688406.1:n.3372A>G
ENST00000688755.1:c.611A>G	ENSP00000508725.1:p.Tyr204Cys
ENST00000689522.1:c.611A>G	ENSP00000509039.1:p.Tyr204Cys
ENST00000690184.1:c.611A>G	ENSP00000509517.1:p.Tyr204Cys
ENST00000690604.1:n.2486A>G
ENST00000691106.1:c.251A>G	ENSP00000508710.1:p.Tyr84Cys
ENST00000691753.1:c.443A>G	ENSP00000509877.1:p.Tyr148Cys
ENST00000691802.1:c.251A>G	ENSP00000510565.1:p.Tyr84Cys
ENST00000692003.1:n.3372A>G
ENST00000367815.9:c.611A>G MANE Select	ENSP00000356789.3:p.Tyr204Cys
ENST00000367815.8:c.611A>G	ENSP00000356789.3:p.Tyr204Cys
ENST00000367816.5:c.611A>G	ENSP00000356790.1:p.Tyr204Cys
NM_001677.3:c.611A>G	NP_001668.1:p.Tyr204Cys
NM_001677.4:c.611A>G MANE Select	NP_001668.1:p.Tyr204Cys