Canonical Allele Identifier: CA517057377

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78009197-C-T
• MyVariant Identifiers: chrX:g.77264694C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009197C>T , CM000685.2:g.78009197C>T	GRCh38
NC_000023.10:g.77264694C>T , CM000685.1:g.77264694C>T	GRCh37
NC_000023.9:g.77151350C>T	NCBI36
NG_013224.2:g.103501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1833C>T (ATP7A)	ENSP00000343026.6:p.Thr611=
ENST00000682742.2:n.1965C>T (ATP7A)
ENST00000685264.1:c.1803C>T (ATP7A)	ENSP00000510136.1:p.Thr601=
ENST00000685434.1:n.1837C>T (ATP7A)
ENST00000686033.1:c.1803C>T (ATP7A)	ENSP00000510693.1:p.Thr601=
ENST00000686133.1:c.1803C>T (ATP7A)	ENSP00000509233.1:p.Thr601=
ENST00000686416.1:n.2157C>T (ATP7A)
ENST00000686480.1:c.1803C>T (ATP7A)	ENSP00000508978.1:p.Thr601=
ENST00000686515.1:n.1943C>T (ATP7A)
ENST00000686543.1:c.1803C>T (ATP7A)	ENSP00000509477.1:p.Thr601=
ENST00000686688.1:c.1803C>T (ATP7A)	ENSP00000509416.1:p.Thr601=
ENST00000686999.1:n.2114C>T (ATP7A)
ENST00000687086.1:c.1803C>T (ATP7A)	ENSP00000509566.1:p.Thr601=
ENST00000687628.1:n.1904C>T (ATP7A)
ENST00000688746.1:n.1955C>T (ATP7A)
ENST00000689530.1:c.1803C>T (ATP7A)	ENSP00000509707.1:p.Thr601=
ENST00000689541.1:n.2112C>T (ATP7A)
ENST00000689649.1:c.1803C>T (ATP7A)	ENSP00000509277.1:p.Thr601=
ENST00000689767.1:c.1896C>T (ATP7A)	ENSP00000509406.1:p.Thr632=
ENST00000689872.1:c.1803C>T (ATP7A)	ENSP00000509373.1:p.Thr601=
ENST00000692110.1:c.1719C>T (ATP7A)	ENSP00000509366.1:p.Thr573=
ENST00000692908.1:c.1803C>T (ATP7A)	ENSP00000508627.1:p.Thr601=
ENST00000693387.1:c.*1732C>T (ATP7A)	ENSP00000508732.1:n.*1732C>T
ENST00000693398.1:c.1803C>T (ATP7A)	ENSP00000510089.1:p.Thr601=
ENST00000341514.11:c.1803C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Thr601=
ENST00000644362.1:c.-20+98362C>T (PGK1)	ENSP00000496140.1:n.-20+98362C>T
ENST00000645094.1:c.*1717C>T (ATP7A)	ENSP00000493605.1:n.*1717C>T
ENST00000341514.10:c.1803C>T (ATP7A)	ENSP00000345728.6:p.Thr601=
ENST00000343533.9:c.1803C>T (ATP7A)	ENSP00000343026.5:p.Thr601=
ENST00000350425.5:c.*976C>T (ATP7A)	ENSP00000343678.5:n.*976C>T
NM_000052.6:c.1803C>T (ATP7A)	NP_000043.4:p.Thr601=
NM_001282224.1:c.1803C>T (ATP7A)	NP_001269153.1:p.Thr601=
NR_104109.1:n.322-22203C>T (ATP7A)
NM_000052.7:c.1803C>T (ATP7A) MANE Select	NP_000043.4:p.Thr601=
NR_104109.2:n.285-22203C>T (ATP7A)
NM_001282224.2:c.1803C>T (ATP7A)	NP_001269153.1:p.Thr601=