Canonical Allele Identifier: CA2605598437

Gene: ATP1B1

Linked Data

• dbSNP Id: rs2101794283
• gnomAD v3: 1-169129765-G-GGTTT
• gnomAD v4: 1-169129765-G-GGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169129767_169129770dup , CM000663.2:g.169129767_169129770dup	GRCh38
NC_000001.10:g.169099005_169099008dup , CM000663.1:g.169099005_169099008dup	GRCh37
NC_000001.9:g.167365629_167365632dup	NCBI36
NG_023230.1:g.28059_28062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494797.2:c.400-243_400-240dup	ENSP00000477015.2:n.400-243_400-240dup
ENST00000685155.1:c.400-243_400-240dup	ENSP00000508678.1:n.400-243_400-240dup
ENST00000685762.1:c.400-243_400-240dup	ENSP00000508918.1:n.400-243_400-240dup
ENST00000685792.1:c.400-243_400-240dup	ENSP00000508616.1:n.400-243_400-240dup
ENST00000686702.1:c.400-243_400-240dup	ENSP00000509060.1:n.400-243_400-240dup
ENST00000687013.1:n.4675_4678dup
ENST00000687182.1:n.415-243_415-240dup
ENST00000687745.1:c.400-243_400-240dup	ENSP00000509323.1:n.400-243_400-240dup
ENST00000688406.1:n.3086_3089dup
ENST00000688755.1:c.568-243_568-240dup	ENSP00000508725.1:n.568-243_568-240dup
ENST00000689522.1:c.568-243_568-240dup	ENSP00000509039.1:n.568-243_568-240dup
ENST00000690184.1:c.568-243_568-240dup	ENSP00000509517.1:n.568-243_568-240dup
ENST00000690604.1:n.2443-243_2443-240dup
ENST00000691106.1:c.208-243_208-240dup	ENSP00000508710.1:n.208-243_208-240dup
ENST00000691753.1:c.400-243_400-240dup	ENSP00000509877.1:n.400-243_400-240dup
ENST00000691802.1:c.208-243_208-240dup	ENSP00000510565.1:n.208-243_208-240dup
ENST00000692003.1:n.3086_3089dup
ENST00000367815.9:c.568-243_568-240dup MANE Select	ENSP00000356789.3:n.568-243_568-240dup
ENST00000367815.8:c.568-243_568-240dup	ENSP00000356789.3:n.568-243_568-240dup
ENST00000367816.5:c.568-243_568-240dup	ENSP00000356790.1:n.568-243_568-240dup
NM_001677.3:c.568-243_568-240dup	NP_001668.1:n.568-243_568-240dup
NM_001677.4:c.568-243_568-240dup MANE Select	NP_001668.1:n.568-243_568-240dup