Canonical Allele Identifier: CA341771615
Community Standard Title: NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)
Gene: ATP1A1 HGNC NCBI
ATP1A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116395238G>A , CM000663.2:g.116395238G>A GRCh38
NC_000001.10:g.116937860G>A , CM000663.1:g.116937860G>A GRCh37
NC_000001.9:g.116739383G>A NCBI36
NG_047036.1:g.28054G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000701.8:c.1789G>A (ATP1A1) MANE Select NP_000692.2:p.Ala597Thr
ENST00000295598.10:c.1789G>A (ATP1A1) MANE Select ENSP00000295598.5:p.Ala597Thr
NM_000701.7:c.1789G>A (ATP1A1) NP_000692.2:p.Ala597Thr
NM_001160233.1:c.1789G>A (ATP1A1) NP_001153705.1:p.Ala597Thr
NM_001160233.2:c.1789G>A (ATP1A1) NP_001153705.1:p.Ala597Thr
NM_001160234.1:c.1696G>A (ATP1A1) NP_001153706.1:p.Ala566Thr
NM_001160234.2:c.1696G>A (ATP1A1) NP_001153706.1:p.Ala566Thr
NR_027646.1:n.401-2212C>T (ATP1A1-AS1)
ENST00000295598.9:c.1789G>A (ATP1A1) ENSP00000295598.5:p.Ala597Thr
ENST00000369496.8:c.1696G>A (ATP1A1) ENSP00000358508.4:p.Ala566Thr
ENST00000537345.5:c.1789G>A (ATP1A1) ENSP00000445306.1:p.Ala597Thr
XM_006710655.2:c.1696G>A (ATP1A1) XP_006710718.1:p.Ala566Thr
XM_017001360.1:c.1696G>A (ATP1A1) XP_016856849.1:p.Ala566Thr
XM_017001361.1:c.1696G>A (ATP1A1) XP_016856850.1:p.Ala566Thr
XR_002956654.1:n.2315G>A (ATP1A1)