Canonical Allele Identifier: CA526705444

Gene: ATP1B1

Linked Data

• dbSNP Id: rs1229571072
• gnomAD v2: 1-169099017-C-CT
• gnomAD v3: 1-169129779-C-CT
• gnomAD v4: 1-169129779-C-CT
• MyVariant Identifiers: chr1:g.169099017_169099018insT (hg19) ; chr1:g.169129779_169129780insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169129781dup , CM000663.2:g.169129781dup	GRCh38
NC_000001.10:g.169099019dup , CM000663.1:g.169099019dup	GRCh37
NC_000001.9:g.167365643dup	NCBI36
NG_023230.1:g.28073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494797.2:c.400-229dup	ENSP00000477015.2:n.400-229dup
ENST00000685155.1:c.400-229dup	ENSP00000508678.1:n.400-229dup
ENST00000685762.1:c.400-229dup	ENSP00000508918.1:n.400-229dup
ENST00000685792.1:c.400-229dup	ENSP00000508616.1:n.400-229dup
ENST00000686702.1:c.400-229dup	ENSP00000509060.1:n.400-229dup
ENST00000687013.1:n.4689dup
ENST00000687182.1:n.415-229dup
ENST00000687745.1:c.400-229dup	ENSP00000509323.1:n.400-229dup
ENST00000688406.1:n.3100dup
ENST00000688755.1:c.568-229dup	ENSP00000508725.1:n.568-229dup
ENST00000689522.1:c.568-229dup	ENSP00000509039.1:n.568-229dup
ENST00000690184.1:c.568-229dup	ENSP00000509517.1:n.568-229dup
ENST00000690604.1:n.2443-229dup
ENST00000691106.1:c.208-229dup	ENSP00000508710.1:n.208-229dup
ENST00000691753.1:c.400-229dup	ENSP00000509877.1:n.400-229dup
ENST00000691802.1:c.208-229dup	ENSP00000510565.1:n.208-229dup
ENST00000692003.1:n.3100dup
ENST00000367815.9:c.568-229dup MANE Select	ENSP00000356789.3:n.568-229dup
ENST00000367815.8:c.568-229dup	ENSP00000356789.3:n.568-229dup
ENST00000367816.5:c.568-229dup	ENSP00000356790.1:n.568-229dup
NM_001677.3:c.568-229dup	NP_001668.1:n.568-229dup
NM_001677.4:c.568-229dup MANE Select	NP_001668.1:n.568-229dup