Canonical Allele Identifier: CA341771587
Community Standard Title: NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)
Gene: ATP1A1 HGNC NCBI
ATP1A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116395224T>C , CM000663.2:g.116395224T>C GRCh38
NC_000001.10:g.116937846T>C , CM000663.1:g.116937846T>C GRCh37
NC_000001.9:g.116739369T>C NCBI36
NG_047036.1:g.28040T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000701.8:c.1775T>C (ATP1A1) MANE Select NP_000692.2:p.Ile592Thr
ENST00000295598.10:c.1775T>C (ATP1A1) MANE Select ENSP00000295598.5:p.Ile592Thr
NM_000701.7:c.1775T>C (ATP1A1) NP_000692.2:p.Ile592Thr
NM_001160233.1:c.1775T>C (ATP1A1) NP_001153705.1:p.Ile592Thr
NM_001160233.2:c.1775T>C (ATP1A1) NP_001153705.1:p.Ile592Thr
NM_001160234.1:c.1682T>C (ATP1A1) NP_001153706.1:p.Ile561Thr
NM_001160234.2:c.1682T>C (ATP1A1) NP_001153706.1:p.Ile561Thr
NR_027646.1:n.401-2198A>G (ATP1A1-AS1)
ENST00000295598.9:c.1775T>C (ATP1A1) ENSP00000295598.5:p.Ile592Thr
ENST00000369496.8:c.1682T>C (ATP1A1) ENSP00000358508.4:p.Ile561Thr
ENST00000537345.5:c.1775T>C (ATP1A1) ENSP00000445306.1:p.Ile592Thr
XM_006710655.2:c.1682T>C (ATP1A1) XP_006710718.1:p.Ile561Thr
XM_017001360.1:c.1682T>C (ATP1A1) XP_016856849.1:p.Ile561Thr
XM_017001361.1:c.1682T>C (ATP1A1) XP_016856850.1:p.Ile561Thr
XR_002956654.1:n.2301T>C (ATP1A1)