Canonical Allele Identifier: CA7987106

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 3131504
• ClinVar RCV Id: RCV004418363
• dbSNP Id: rs748891250
• ExAC: 16:28912006 G / T
• gnomAD v2: 16-28912006-G-T
• gnomAD v4: 16-28900685-G-T
• MyVariant Identifiers: chr16:g.28912006G>T (hg19) ; chr16:g.28900685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900685G>T , CM000678.2:g.28900685G>T	GRCh38
NC_000016.9:g.28912006G>T , CM000678.1:g.28912006G>T	GRCh37
NC_000016.8:g.28819507G>T	NCBI36
NG_023327.1:g.27198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.1869G>T MANE Select	ENSP00000378879.5:p.Met623Ile
ENST00000357084.7:c.1869G>T	ENSP00000349595.3:p.Met623Ile
ENST00000395503.8:c.1869G>T	ENSP00000378879.4:p.Met623Ile
ENST00000536376.5:c.1494G>T	ENSP00000443101.1:p.Met498Ile
NM_001286075.1:c.1494G>T	NP_001273004.1:p.Met498Ile
NM_004320.4:c.1869G>T	NP_004311.1:p.Met623Ile
NM_173201.3:c.1869G>T	NP_775293.1:p.Met623Ile
NM_004320.6:c.1869G>T MANE Select	NP_004311.1:p.Met623Ile
NM_173201.4:c.1869G>T	NP_775293.1:p.Met623Ile
NM_001286075.2:c.1494G>T	NP_001273004.1:p.Met498Ile
NM_173201.5:c.1869G>T	NP_775293.1:p.Met623Ile