Canonical Allele Identifier: CA794983011

Gene: ATP8A1

Linked Data

• dbSNP Id: rs1354870104
• MyVariant Identifiers: chr4:g.42412393A>C (hg19) ; chr4:g.42410376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42410376A>C , CM000666.2:g.42410376A>C	GRCh38
NC_000004.11:g.42412393A>C , CM000666.1:g.42412393A>C	GRCh37
NC_000004.10:g.42107150A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700470.1:c.*2540T>G	ENSP00000515003.1:n.*2540T>G
ENST00000264449.14:c.*2540T>G	ENSP00000264449.10:n.*2540T>G
ENST00000381668.9:c.*2540T>G MANE Select	ENSP00000371084.5:n.*2540T>G
ENST00000514372.5:c.3915T>G	ENSP00000426495.1:n.3915T>G
NM_001105529.1:c.*2540T>G	NP_001098999.1:n.*2540T>G
NM_006095.2:c.*2540T>G MANE Select	NP_006086.1:n.*2540T>G
XM_005248043.2:c.*2540T>G	XP_005248100.1:n.*2540T>G
XM_011513615.1:c.*2540T>G	XP_011511917.1:n.*2540T>G
XM_011513616.1:c.*2540T>G	XP_011511918.1:n.*2540T>G
XM_011513618.1:c.*2540T>G	XP_011511920.1:n.*2540T>G
XM_011513619.1:c.*2540T>G	XP_011511921.1:n.*2540T>G
XR_925118.1:n.6089T>G
XM_005248043.3:c.*2540T>G	XP_005248100.1:n.*2540T>G
XM_011513615.2:c.*2540T>G	XP_011511917.1:n.*2540T>G
XM_011513616.3:c.*2540T>G	XP_011511918.1:n.*2540T>G
XM_011513618.2:c.*2540T>G	XP_011511920.1:n.*2540T>G
XM_017007645.2:c.*2540T>G	XP_016863134.1:n.*2540T>G
XM_017007646.1:c.*2540T>G	XP_016863135.1:n.*2540T>G
XM_017007647.1:c.*2540T>G	XP_016863136.1:n.*2540T>G
XR_001741094.2:n.6108T>G
XR_925117.3:n.6302T>G
XR_925118.2:n.6094T>G
NM_001400024.1:c.*2540T>G	NP_001386953.1:n.*2540T>G
NM_001400025.1:c.*2540T>G	NP_001386954.1:n.*2540T>G
NM_001400026.1:c.*2540T>G	NP_001386955.1:n.*2540T>G
NM_001400027.1:c.*2540T>G	NP_001386956.1:n.*2540T>G