Canonical Allele Identifier: CA29664360
Community Standard Title: NM_000701.8(ATP1A1):c.1974-129G>A
Gene: ATP1A1 HGNC NCBI
ATP1A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116397759G>A , CM000663.2:g.116397759G>A GRCh38
NC_000001.10:g.116940381G>A , CM000663.1:g.116940381G>A GRCh37
NC_000001.9:g.116741904G>A NCBI36
NG_047036.1:g.30575G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000701.8:c.1974-129G>A (ATP1A1) MANE Select NP_000692.2:n.1974-129G>A
ENST00000295598.10:c.1974-129G>A (ATP1A1) MANE Select ENSP00000295598.5:n.1974-129G>A
NM_000701.7:c.1974-129G>A (ATP1A1) NP_000692.2:n.1974-129G>A
NM_001160233.1:c.1974-129G>A (ATP1A1) NP_001153705.1:n.1974-129G>A
NM_001160233.2:c.1974-129G>A (ATP1A1) NP_001153705.1:n.1974-129G>A
NM_001160234.1:c.1881-129G>A (ATP1A1) NP_001153706.1:n.1881-129G>A
NM_001160234.2:c.1881-129G>A (ATP1A1) NP_001153706.1:n.1881-129G>A
NR_027646.1:n.400+3137C>T (ATP1A1-AS1)
ENST00000295598.9:c.1974-129G>A (ATP1A1) ENSP00000295598.5:n.1974-129G>A
ENST00000369496.8:c.1881-129G>A (ATP1A1) ENSP00000358508.4:n.1881-129G>A
ENST00000537345.5:c.1974-129G>A (ATP1A1) ENSP00000445306.1:n.1974-129G>A
XM_006710655.2:c.1881-129G>A (ATP1A1) XP_006710718.1:n.1881-129G>A
XM_017001360.1:c.1881-129G>A (ATP1A1) XP_016856849.1:n.1881-129G>A
XM_017001361.1:c.1881-129G>A (ATP1A1) XP_016856850.1:n.1881-129G>A
XR_002956654.1:n.2500-129G>A (ATP1A1)