Canonical Allele Identifier: CA2632541331

Gene: ATP2A1

Linked Data

• gnomAD v4: 16-28902951-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28902951G>C , CM000678.2:g.28902951G>C	GRCh38
NC_000016.9:g.28914272G>C , CM000678.1:g.28914272G>C	GRCh37
NC_000016.8:g.28821773G>C	NCBI36
NG_023327.1:g.29464G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395503.9:c.2744+40G>C MANE Select	ENSP00000378879.5:n.2744+40G>C
ENST00000357084.7:c.2744+40G>C	ENSP00000349595.3:n.2744+40G>C
ENST00000395503.8:c.2744+40G>C	ENSP00000378879.4:n.2744+40G>C
ENST00000536376.5:c.2369+40G>C	ENSP00000443101.1:n.2369+40G>C
NM_001286075.1:c.2369+40G>C	NP_001273004.1:n.2369+40G>C
NM_004320.4:c.2744+40G>C	NP_004311.1:n.2744+40G>C
NM_173201.3:c.2744+40G>C	NP_775293.1:n.2744+40G>C
NM_004320.6:c.2744+40G>C MANE Select	NP_004311.1:n.2744+40G>C
NM_173201.4:c.2744+40G>C	NP_775293.1:n.2744+40G>C
NM_001286075.2:c.2369+40G>C	NP_001273004.1:n.2369+40G>C
NM_173201.5:c.2744+40G>C	NP_775293.1:n.2744+40G>C