Canonical Allele Identifier: CA10459112

Linked Data

ClinVar Variation Id: 388532
dbSNP Id: rs371777895
gnomAD v2: X-77264693-C-A
gnomAD v4: X-78009196-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78009196C>A , CM000685.2:g.78009196C>A GRCh38
NC_000023.10:g.77264693C>A , CM000685.1:g.77264693C>A GRCh37
NC_000023.9:g.77151349C>A NCBI36
NG_013224.2:g.103500C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.1832C>A (ATP7A) ENSP00000343026.6:p.Thr611Asn
ENST00000682742.2:n.1964C>A (ATP7A)
ENST00000685264.1:c.1802C>A (ATP7A) ENSP00000510136.1:p.Thr601Asn
ENST00000685434.1:n.1836C>A (ATP7A)
ENST00000686033.1:c.1802C>A (ATP7A) ENSP00000510693.1:p.Thr601Asn
ENST00000686133.1:c.1802C>A (ATP7A) ENSP00000509233.1:p.Thr601Asn
ENST00000686416.1:n.2156C>A (ATP7A)
ENST00000686480.1:c.1802C>A (ATP7A) ENSP00000508978.1:p.Thr601Asn
ENST00000686515.1:n.1942C>A (ATP7A)
ENST00000686543.1:c.1802C>A (ATP7A) ENSP00000509477.1:p.Thr601Asn
ENST00000686688.1:c.1802C>A (ATP7A) ENSP00000509416.1:p.Thr601Asn
ENST00000686999.1:n.2113C>A (ATP7A)
ENST00000687086.1:c.1802C>A (ATP7A) ENSP00000509566.1:p.Thr601Asn
ENST00000687628.1:n.1903C>A (ATP7A)
ENST00000688746.1:n.1954C>A (ATP7A)
ENST00000689530.1:c.1802C>A (ATP7A) ENSP00000509707.1:p.Thr601Asn
ENST00000689541.1:n.2111C>A (ATP7A)
ENST00000689649.1:c.1802C>A (ATP7A) ENSP00000509277.1:p.Thr601Asn
ENST00000689767.1:c.1895C>A (ATP7A) ENSP00000509406.1:p.Thr632Asn
ENST00000689872.1:c.1802C>A (ATP7A) ENSP00000509373.1:p.Thr601Asn
ENST00000692110.1:c.1718C>A (ATP7A) ENSP00000509366.1:p.Thr573Asn
ENST00000692908.1:c.1802C>A (ATP7A) ENSP00000508627.1:p.Thr601Asn
ENST00000693387.1:c.*1731C>A (ATP7A) ENSP00000508732.1:n.*1731C>A
ENST00000693398.1:c.1802C>A (ATP7A) ENSP00000510089.1:p.Thr601Asn
ENST00000341514.11:c.1802C>A (ATP7A) MANE Select ENSP00000345728.6:p.Thr601Asn
ENST00000644362.1:c.-20+98361C>A (PGK1) ENSP00000496140.1:n.-20+98361C>A
ENST00000645094.1:c.*1716C>A (ATP7A) ENSP00000493605.1:n.*1716C>A
ENST00000341514.10:c.1802C>A (ATP7A) ENSP00000345728.6:p.Thr601Asn
ENST00000343533.9:c.1802C>A (ATP7A) ENSP00000343026.5:p.Thr601Asn
ENST00000350425.5:c.*975C>A (ATP7A) ENSP00000343678.5:n.*975C>A
NM_000052.6:c.1802C>A (ATP7A) NP_000043.4:p.Thr601Asn
NM_001282224.1:c.1802C>A (ATP7A) NP_001269153.1:p.Thr601Asn
NR_104109.1:n.322-22204C>A (ATP7A)
NM_000052.7:c.1802C>A (ATP7A) MANE Select NP_000043.4:p.Thr601Asn
NR_104109.2:n.285-22204C>A (ATP7A)
NM_001282224.2:c.1802C>A (ATP7A) NP_001269153.1:p.Thr601Asn