Canonical Allele Identifier: CA550789768

Gene: ATP8A1

Linked Data

• dbSNP Id: rs1387828174
• gnomAD v2: 4-42412359-T-A
• gnomAD v3: 4-42410342-T-A
• gnomAD v4: 4-42410342-T-A
• MyVariant Identifiers: chr4:g.42412359T>A (hg19) ; chr4:g.42410342T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42410342T>A , CM000666.2:g.42410342T>A	GRCh38
NC_000004.11:g.42412359T>A , CM000666.1:g.42412359T>A	GRCh37
NC_000004.10:g.42107116T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700470.1:c.*2574A>T	ENSP00000515003.1:n.*2574A>T
ENST00000264449.14:c.*2574A>T	ENSP00000264449.10:n.*2574A>T
ENST00000381668.9:c.*2574A>T MANE Select	ENSP00000371084.5:n.*2574A>T
ENST00000514372.5:c.3949A>T	ENSP00000426495.1:n.3949A>T
NM_001105529.1:c.*2574A>T	NP_001098999.1:n.*2574A>T
NM_006095.2:c.*2574A>T MANE Select	NP_006086.1:n.*2574A>T
XM_005248043.2:c.*2574A>T	XP_005248100.1:n.*2574A>T
XM_011513615.1:c.*2574A>T	XP_011511917.1:n.*2574A>T
XM_011513616.1:c.*2574A>T	XP_011511918.1:n.*2574A>T
XM_011513618.1:c.*2574A>T	XP_011511920.1:n.*2574A>T
XM_011513619.1:c.*2574A>T	XP_011511921.1:n.*2574A>T
XR_925118.1:n.6123A>T
XM_005248043.3:c.*2574A>T	XP_005248100.1:n.*2574A>T
XM_011513615.2:c.*2574A>T	XP_011511917.1:n.*2574A>T
XM_011513616.3:c.*2574A>T	XP_011511918.1:n.*2574A>T
XM_011513618.2:c.*2574A>T	XP_011511920.1:n.*2574A>T
XM_017007645.2:c.*2574A>T	XP_016863134.1:n.*2574A>T
XM_017007646.1:c.*2574A>T	XP_016863135.1:n.*2574A>T
XM_017007647.1:c.*2574A>T	XP_016863136.1:n.*2574A>T
XR_001741094.2:n.6142A>T
XR_925117.3:n.6336A>T
XR_925118.2:n.6128A>T
NM_001400024.1:c.*2574A>T	NP_001386953.1:n.*2574A>T
NM_001400025.1:c.*2574A>T	NP_001386954.1:n.*2574A>T
NM_001400026.1:c.*2574A>T	NP_001386955.1:n.*2574A>T
NM_001400027.1:c.*2574A>T	NP_001386956.1:n.*2574A>T