Canonical Allele Identifier: CA32426131

Gene: ATP1B1

Linked Data

• dbSNP Id: rs555407043
• gnomAD v3: 1-169130284-T-C
• gnomAD v4: 1-169130284-T-C
• MyVariant Identifiers: chr1:g.169099522T>C (hg19) ; chr1:g.169130284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169130284T>C , CM000663.2:g.169130284T>C	GRCh38
NC_000001.10:g.169099522T>C , CM000663.1:g.169099522T>C	GRCh37
NC_000001.9:g.167366146T>C	NCBI36
NG_023230.1:g.28576T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494797.2:c.480+194T>C	ENSP00000477015.2:n.480+194T>C
ENST00000685155.1:c.480+194T>C	ENSP00000508678.1:n.480+194T>C
ENST00000685762.1:c.480+194T>C	ENSP00000508918.1:n.480+194T>C
ENST00000685792.1:c.480+194T>C	ENSP00000508616.1:n.480+194T>C
ENST00000686702.1:c.480+194T>C	ENSP00000509060.1:n.480+194T>C
ENST00000687013.1:n.4998+194T>C
ENST00000687182.1:n.495+194T>C
ENST00000687745.1:c.480+194T>C	ENSP00000509323.1:n.480+194T>C
ENST00000688406.1:n.3603T>C
ENST00000688755.1:c.648+194T>C	ENSP00000508725.1:n.648+194T>C
ENST00000689522.1:c.648+194T>C	ENSP00000509039.1:n.648+194T>C
ENST00000690184.1:c.648+194T>C	ENSP00000509517.1:n.648+194T>C
ENST00000690604.1:n.2523+194T>C
ENST00000691106.1:c.288+194T>C	ENSP00000508710.1:n.288+194T>C
ENST00000691753.1:c.480+194T>C	ENSP00000509877.1:n.480+194T>C
ENST00000691802.1:c.288+194T>C	ENSP00000510565.1:n.288+194T>C
ENST00000692003.1:n.3409+194T>C
ENST00000367815.9:c.648+194T>C MANE Select	ENSP00000356789.3:n.648+194T>C
ENST00000367815.8:c.648+194T>C	ENSP00000356789.3:n.648+194T>C
ENST00000367816.5:c.648+194T>C	ENSP00000356790.1:n.648+194T>C
NM_001677.3:c.648+194T>C	NP_001668.1:n.648+194T>C
NM_001677.4:c.648+194T>C MANE Select	NP_001668.1:n.648+194T>C