Canonical Allele Identifier: CA341771634
Community Standard Title: NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)
Gene: ATP1A1 HGNC NCBI
ATP1A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116395247C>G , CM000663.2:g.116395247C>G GRCh38
NC_000001.10:g.116937869C>G , CM000663.1:g.116937869C>G GRCh37
NC_000001.9:g.116739392C>G NCBI36
NG_047036.1:g.28063C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000701.8:c.1798C>G (ATP1A1) MANE Select NP_000692.2:p.Pro600Ala
ENST00000295598.10:c.1798C>G (ATP1A1) MANE Select ENSP00000295598.5:p.Pro600Ala
NM_000701.7:c.1798C>G (ATP1A1) NP_000692.2:p.Pro600Ala
NM_001160233.1:c.1798C>G (ATP1A1) NP_001153705.1:p.Pro600Ala
NM_001160233.2:c.1798C>G (ATP1A1) NP_001153705.1:p.Pro600Ala
NM_001160234.1:c.1705C>G (ATP1A1) NP_001153706.1:p.Pro569Ala
NM_001160234.2:c.1705C>G (ATP1A1) NP_001153706.1:p.Pro569Ala
NR_027646.1:n.401-2221G>C (ATP1A1-AS1)
ENST00000295598.9:c.1798C>G (ATP1A1) ENSP00000295598.5:p.Pro600Ala
ENST00000369496.8:c.1705C>G (ATP1A1) ENSP00000358508.4:p.Pro569Ala
ENST00000537345.5:c.1798C>G (ATP1A1) ENSP00000445306.1:p.Pro600Ala
XM_006710655.2:c.1705C>G (ATP1A1) XP_006710718.1:p.Pro569Ala
XM_017001360.1:c.1705C>G (ATP1A1) XP_016856849.1:p.Pro569Ala
XM_017001361.1:c.1705C>G (ATP1A1) XP_016856850.1:p.Pro569Ala
XR_002956654.1:n.2324C>G (ATP1A1)