Canonical Allele Identifier: CA341773876
Community Standard Title: NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)
Gene: ATP1A1 HGNC NCBI
ATP1A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116399068A>C , CM000663.2:g.116399068A>C GRCh38
NC_000001.10:g.116941690A>C , CM000663.1:g.116941690A>C GRCh37
NC_000001.9:g.116743213A>C NCBI36
NG_047036.1:g.31884A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000701.8:c.2432A>C (ATP1A1) MANE Select NP_000692.2:p.Asp811Ala
ENST00000295598.10:c.2432A>C (ATP1A1) MANE Select ENSP00000295598.5:p.Asp811Ala
NM_000701.7:c.2432A>C (ATP1A1) NP_000692.2:p.Asp811Ala
NM_001160233.1:c.2432A>C (ATP1A1) NP_001153705.1:p.Asp811Ala
NM_001160233.2:c.2432A>C (ATP1A1) NP_001153705.1:p.Asp811Ala
NM_001160234.1:c.2339A>C (ATP1A1) NP_001153706.1:p.Asp780Ala
NM_001160234.2:c.2339A>C (ATP1A1) NP_001153706.1:p.Asp780Ala
NR_027645.1:n.600T>G (ATP1A1-AS1)
NR_027646.1:n.400+1828T>G (ATP1A1-AS1)
ENST00000295598.9:c.2432A>C (ATP1A1) ENSP00000295598.5:p.Asp811Ala
ENST00000369496.8:c.2339A>C (ATP1A1) ENSP00000358508.4:p.Asp780Ala
ENST00000537345.5:c.2432A>C (ATP1A1) ENSP00000445306.1:p.Asp811Ala
XM_006710655.2:c.2339A>C (ATP1A1) XP_006710718.1:p.Asp780Ala
XM_017001360.1:c.2339A>C (ATP1A1) XP_016856849.1:p.Asp780Ala
XM_017001361.1:c.2339A>C (ATP1A1) XP_016856850.1:p.Asp780Ala
XR_002956654.1:n.2958A>C (ATP1A1)