Canonical Allele Identifier: CA343108859

Gene: ATP1B1

Linked Data

• gnomAD v4: 1-169130071-C-T
• MyVariant Identifiers: chr1:g.169099309C>T (hg19) ; chr1:g.169130071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169130071C>T , CM000663.2:g.169130071C>T	GRCh38
NC_000001.10:g.169099309C>T , CM000663.1:g.169099309C>T	GRCh37
NC_000001.9:g.167365933C>T	NCBI36
NG_023230.1:g.28363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494797.2:c.461C>T	ENSP00000477015.2:p.Pro154Leu
ENST00000685155.1:c.461C>T	ENSP00000508678.1:p.Pro154Leu
ENST00000685762.1:c.461C>T	ENSP00000508918.1:p.Pro154Leu
ENST00000685792.1:c.461C>T	ENSP00000508616.1:p.Pro154Leu
ENST00000686702.1:c.461C>T	ENSP00000509060.1:p.Pro154Leu
ENST00000687013.1:n.4979C>T
ENST00000687182.1:n.476C>T
ENST00000687745.1:c.461C>T	ENSP00000509323.1:p.Pro154Leu
ENST00000688406.1:n.3390C>T
ENST00000688755.1:c.629C>T	ENSP00000508725.1:p.Pro210Leu
ENST00000689522.1:c.629C>T	ENSP00000509039.1:p.Pro210Leu
ENST00000690184.1:c.629C>T	ENSP00000509517.1:p.Pro210Leu
ENST00000690604.1:n.2504C>T
ENST00000691106.1:c.269C>T	ENSP00000508710.1:p.Pro90Leu
ENST00000691753.1:c.461C>T	ENSP00000509877.1:p.Pro154Leu
ENST00000691802.1:c.269C>T	ENSP00000510565.1:p.Pro90Leu
ENST00000692003.1:n.3390C>T
ENST00000367815.9:c.629C>T MANE Select	ENSP00000356789.3:p.Pro210Leu
ENST00000367815.8:c.629C>T	ENSP00000356789.3:p.Pro210Leu
ENST00000367816.5:c.629C>T	ENSP00000356790.1:p.Pro210Leu
NM_001677.3:c.629C>T	NP_001668.1:p.Pro210Leu
NM_001677.4:c.629C>T MANE Select	NP_001668.1:p.Pro210Leu