Canonical Allele Identifier: CA10459276
Community Standard Title: NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78014747T>A , CM000685.2:g.78014747T>A GRCh38
NC_000023.10:g.77270244T>A , CM000685.1:g.77270244T>A GRCh37
NC_000023.9:g.77156900T>A NCBI36
NG_013224.2:g.109051T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000052.7:c.2492T>A (ATP7A) MANE Select NP_000043.4:p.Leu831His
ENST00000341514.11:c.2492T>A (ATP7A) MANE Select ENSP00000345728.6:p.Leu831His
NM_000052.6:c.2492T>A (ATP7A) NP_000043.4:p.Leu831His
NM_001282224.1:c.2258T>A (ATP7A) NP_001269153.1:p.Leu753His
NM_001282224.2:c.2258T>A (ATP7A) NP_001269153.1:p.Leu753His
NR_104109.1:n.322-16653T>A (ATP7A)
NR_104109.2:n.285-16653T>A (ATP7A)
ENST00000341514.10:c.2492T>A (ATP7A) ENSP00000345728.6:p.Leu831His
ENST00000343533.10:c.2522T>A (ATP7A) ENSP00000343026.6:p.Leu841His
ENST00000343533.9:c.2258T>A (ATP7A) ENSP00000343026.5:p.Leu753His
ENST00000350425.5:c.*1665T>A (ATP7A) ENSP00000343678.5:n.*1665T>A
ENST00000644362.1:c.-19-95120T>A (PGK1) ENSP00000496140.1:n.-19-95120T>A
ENST00000645094.1:c.*2406T>A (ATP7A) ENSP00000493605.1:n.*2406T>A
ENST00000682475.1:n.909T>A (ATP7A)
ENST00000685033.1:c.86T>A (ATP7A) ENSP00000509269.1:p.Leu29His
ENST00000685264.1:c.2492T>A (ATP7A) ENSP00000510136.1:p.Leu831His
ENST00000686033.1:c.2492T>A (ATP7A) ENSP00000510693.1:p.Leu831His
ENST00000686133.1:c.2492T>A (ATP7A) ENSP00000509233.1:p.Leu831His
ENST00000686255.1:n.1523T>A (ATP7A)
ENST00000686480.1:c.2258T>A (ATP7A) ENSP00000508978.1:p.Leu753His
ENST00000686543.1:c.2258T>A (ATP7A) ENSP00000509477.1:p.Leu753His
ENST00000686688.1:c.2492T>A (ATP7A) ENSP00000509416.1:p.Leu831His
ENST00000687086.1:c.2492T>A (ATP7A) ENSP00000509566.1:p.Leu831His
ENST00000689514.1:n.534T>A (ATP7A)
ENST00000689530.1:c.2492T>A (ATP7A) ENSP00000509707.1:p.Leu831His
ENST00000689649.1:c.2492T>A (ATP7A) ENSP00000509277.1:p.Leu831His
ENST00000689767.1:c.2585T>A (ATP7A) ENSP00000509406.1:p.Leu862His
ENST00000689872.1:c.*441T>A (ATP7A) ENSP00000509373.1:n.*441T>A
ENST00000692908.1:c.2258T>A (ATP7A) ENSP00000508627.1:p.Leu753His
ENST00000693398.1:c.2492T>A (ATP7A) ENSP00000510089.1:p.Leu831His