Canonical Allele Identifier: CA343244415

Gene: ATP1A2

Linked Data

• MyVariant Identifiers: chr1:g.160100335C>T (hg19) ; chr1:g.160130545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160130545C>T , CM000663.2:g.160130545C>T	GRCh38
NC_000001.10:g.160100335C>T , CM000663.1:g.160100335C>T	GRCh37
NC_000001.9:g.158366959C>T	NCBI36
NG_008014.1:g.19788C>T , LRG_6:g.19788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.1775C>T MANE Select	ENSP00000354490.3:p.Pro592Leu
ENST00000361216.7:c.1775C>T	ENSP00000354490.3:p.Pro592Leu
ENST00000392233.7:c.1775C>T	ENSP00000376066.3:p.Pro592Leu
ENST00000447527.1:c.907C>T
ENST00000472488.5:n.1878C>T
NM_000702.3:c.1775C>T	NP_000693.1:p.Pro592Leu
NM_000702.4:c.1775C>T MANE Select	NP_000693.1:p.Pro592Leu