Canonical Allele Identifier: CA351655
Gene: ATP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160124371G>A
GRCh37 chr1:g.160094161G>A
Revel Score:
ENST00000538123 0.891
ENST00000361216 (MANE Select) 0.891
ENST00000392233 0.891
ClinVar RCV:
RCV000207519
ClinVar Variation:
222078
dbSNP:
869025341
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160124371G>A , CM000663.2:g.160124371G>A GRCh38
NC_000001.10:g.160094161G>A , CM000663.1:g.160094161G>A GRCh37
NC_000001.9:g.158360785G>A NCBI36
NG_008014.1:g.13614G>A , LRG_6:g.13614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.571G>A MANE Select ENSP00000354490.3:p.Val191Met
ENST00000361216.7:c.571G>A ENSP00000354490.3:p.Val191Met
ENST00000392233.7:c.571G>A ENSP00000376066.3:p.Val191Met
ENST00000468587.1:n.175G>A
ENST00000472488.5:n.674G>A
NM_000702.3:c.571G>A NP_000693.1:p.Val191Met
NM_000702.4:c.571G>A MANE Select NP_000693.1:p.Val191Met
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