Canonical Allele Identifier: CA279244651

Gene: ATP2A1

Linked Data

• dbSNP Id: rs866768607
• gnomAD v4: 16-28902966-C-T
• MyVariant Identifiers: chr16:g.28914287C>T (hg19) ; chr16:g.28902966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28902966C>T , CM000678.2:g.28902966C>T	GRCh38
NC_000016.9:g.28914287C>T , CM000678.1:g.28914287C>T	GRCh37
NC_000016.8:g.28821788C>T	NCBI36
NG_023327.1:g.29479C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395503.9:c.2744+55C>T MANE Select	ENSP00000378879.5:n.2744+55C>T
ENST00000357084.7:c.2744+55C>T	ENSP00000349595.3:n.2744+55C>T
ENST00000395503.8:c.2744+55C>T	ENSP00000378879.4:n.2744+55C>T
ENST00000536376.5:c.2369+55C>T	ENSP00000443101.1:n.2369+55C>T
NM_001286075.1:c.2369+55C>T	NP_001273004.1:n.2369+55C>T
NM_004320.4:c.2744+55C>T	NP_004311.1:n.2744+55C>T
NM_173201.3:c.2744+55C>T	NP_775293.1:n.2744+55C>T
NM_004320.6:c.2744+55C>T MANE Select	NP_004311.1:n.2744+55C>T
NM_173201.4:c.2744+55C>T	NP_775293.1:n.2744+55C>T
NM_001286075.2:c.2369+55C>T	NP_001273004.1:n.2369+55C>T
NM_173201.5:c.2744+55C>T	NP_775293.1:n.2744+55C>T