Canonical Allele Identifier: CA343108843

Gene: ATP1B1

Linked Data

• dbSNP Id: rs1658173541
• gnomAD v3: 1-169130064-G-A
• gnomAD v4: 1-169130064-G-A
• MyVariant Identifiers: chr1:g.169099302G>A (hg19) ; chr1:g.169130064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169130064G>A , CM000663.2:g.169130064G>A	GRCh38
NC_000001.10:g.169099302G>A , CM000663.1:g.169099302G>A	GRCh37
NC_000001.9:g.167365926G>A	NCBI36
NG_023230.1:g.28356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494797.2:c.454G>A	ENSP00000477015.2:p.Val152Ile
ENST00000685155.1:c.454G>A	ENSP00000508678.1:p.Val152Ile
ENST00000685762.1:c.454G>A	ENSP00000508918.1:p.Val152Ile
ENST00000685792.1:c.454G>A	ENSP00000508616.1:p.Val152Ile
ENST00000686702.1:c.454G>A	ENSP00000509060.1:p.Val152Ile
ENST00000687013.1:n.4972G>A
ENST00000687182.1:n.469G>A
ENST00000687745.1:c.454G>A	ENSP00000509323.1:p.Val152Ile
ENST00000688406.1:n.3383G>A
ENST00000688755.1:c.622G>A	ENSP00000508725.1:p.Val208Ile
ENST00000689522.1:c.622G>A	ENSP00000509039.1:p.Val208Ile
ENST00000690184.1:c.622G>A	ENSP00000509517.1:p.Val208Ile
ENST00000690604.1:n.2497G>A
ENST00000691106.1:c.262G>A	ENSP00000508710.1:p.Val88Ile
ENST00000691753.1:c.454G>A	ENSP00000509877.1:p.Val152Ile
ENST00000691802.1:c.262G>A	ENSP00000510565.1:p.Val88Ile
ENST00000692003.1:n.3383G>A
ENST00000367815.9:c.622G>A MANE Select	ENSP00000356789.3:p.Val208Ile
ENST00000367815.8:c.622G>A	ENSP00000356789.3:p.Val208Ile
ENST00000367816.5:c.622G>A	ENSP00000356790.1:p.Val208Ile
NM_001677.3:c.622G>A	NP_001668.1:p.Val208Ile
NM_001677.4:c.622G>A MANE Select	NP_001668.1:p.Val208Ile