Canonical Allele Identifier: CA11777404

Gene: ATP8A1

Linked Data

• dbSNP Id: rs12639920
• gnomAD v2: 4-42412687-T-G
• gnomAD v3: 4-42410670-T-G
• gnomAD v4: 4-42410670-T-G
• MyVariant Identifiers: chr4:g.42412687T>G (hg19) ; chr4:g.42410670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42410670T>G , CM000666.2:g.42410670T>G	GRCh38
NC_000004.11:g.42412687T>G , CM000666.1:g.42412687T>G	GRCh37
NC_000004.10:g.42107444T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700470.1:c.*2246A>C	ENSP00000515003.1:n.*2246A>C
ENST00000264449.14:c.*2246A>C	ENSP00000264449.10:n.*2246A>C
ENST00000381668.9:c.*2246A>C MANE Select	ENSP00000371084.5:n.*2246A>C
ENST00000514372.5:c.3621A>C	ENSP00000426495.1:n.3621A>C
NM_001105529.1:c.*2246A>C	NP_001098999.1:n.*2246A>C
NM_006095.2:c.*2246A>C MANE Select	NP_006086.1:n.*2246A>C
XM_005248043.2:c.*2246A>C	XP_005248100.1:n.*2246A>C
XM_011513615.1:c.*2246A>C	XP_011511917.1:n.*2246A>C
XM_011513616.1:c.*2246A>C	XP_011511918.1:n.*2246A>C
XM_011513618.1:c.*2246A>C	XP_011511920.1:n.*2246A>C
XM_011513619.1:c.*2246A>C	XP_011511921.1:n.*2246A>C
XR_925118.1:n.5795A>C
XM_005248043.3:c.*2246A>C	XP_005248100.1:n.*2246A>C
XM_011513615.2:c.*2246A>C	XP_011511917.1:n.*2246A>C
XM_011513616.3:c.*2246A>C	XP_011511918.1:n.*2246A>C
XM_011513618.2:c.*2246A>C	XP_011511920.1:n.*2246A>C
XM_017007645.2:c.*2246A>C	XP_016863134.1:n.*2246A>C
XM_017007646.1:c.*2246A>C	XP_016863135.1:n.*2246A>C
XM_017007647.1:c.*2246A>C	XP_016863136.1:n.*2246A>C
XR_001741094.2:n.5814A>C
XR_925117.3:n.6008A>C
XR_925118.2:n.5800A>C
NM_001400024.1:c.*2246A>C	NP_001386953.1:n.*2246A>C
NM_001400025.1:c.*2246A>C	NP_001386954.1:n.*2246A>C
NM_001400026.1:c.*2246A>C	NP_001386955.1:n.*2246A>C
NM_001400027.1:c.*2246A>C	NP_001386956.1:n.*2246A>C