Canonical Allele Identifier: CA343244380

Gene: ATP1A2

Linked Data

• MyVariant Identifiers: chr1:g.160100325A>T (hg19) ; chr1:g.160130535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160130535A>T , CM000663.2:g.160130535A>T	GRCh38
NC_000001.10:g.160100325A>T , CM000663.1:g.160100325A>T	GRCh37
NC_000001.9:g.158366949A>T	NCBI36
NG_008014.1:g.19778A>T , LRG_6:g.19778A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.1765A>T MANE Select	ENSP00000354490.3:p.Ile589Phe
ENST00000361216.7:c.1765A>T	ENSP00000354490.3:p.Ile589Phe
ENST00000392233.7:c.1765A>T	ENSP00000376066.3:p.Ile589Phe
ENST00000447527.1:c.897A>T
ENST00000472488.5:n.1868A>T
NM_000702.3:c.1765A>T	NP_000693.1:p.Ile589Phe
NM_000702.4:c.1765A>T MANE Select	NP_000693.1:p.Ile589Phe