Canonical Allele Identifier: CA517057529

Gene: ATP7A PGK1

Linked Data

• MyVariant Identifiers: chrX:g.77264754A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009257A>T , CM000685.2:g.78009257A>T	GRCh38
NC_000023.10:g.77264754A>T , CM000685.1:g.77264754A>T	GRCh37
NC_000023.9:g.77151410A>T	NCBI36
NG_013224.2:g.103561A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1893A>T (ATP7A)	ENSP00000343026.6:p.Thr631=
ENST00000682742.2:n.2025A>T (ATP7A)
ENST00000685264.1:c.1863A>T (ATP7A)	ENSP00000510136.1:p.Thr621=
ENST00000685434.1:n.1897A>T (ATP7A)
ENST00000686033.1:c.1863A>T (ATP7A)	ENSP00000510693.1:p.Thr621=
ENST00000686133.1:c.1863A>T (ATP7A)	ENSP00000509233.1:p.Thr621=
ENST00000686416.1:n.2217A>T (ATP7A)
ENST00000686480.1:c.1863A>T (ATP7A)	ENSP00000508978.1:p.Thr621=
ENST00000686515.1:n.2003A>T (ATP7A)
ENST00000686543.1:c.1863A>T (ATP7A)	ENSP00000509477.1:p.Thr621=
ENST00000686688.1:c.1863A>T (ATP7A)	ENSP00000509416.1:p.Thr621=
ENST00000686999.1:n.2174A>T (ATP7A)
ENST00000687086.1:c.1863A>T (ATP7A)	ENSP00000509566.1:p.Thr621=
ENST00000687628.1:n.1964A>T (ATP7A)
ENST00000688746.1:n.2015A>T (ATP7A)
ENST00000689530.1:c.1863A>T (ATP7A)	ENSP00000509707.1:p.Thr621=
ENST00000689541.1:n.2172A>T (ATP7A)
ENST00000689649.1:c.1863A>T (ATP7A)	ENSP00000509277.1:p.Thr621=
ENST00000689767.1:c.1956A>T (ATP7A)	ENSP00000509406.1:p.Thr652=
ENST00000689872.1:c.1863A>T (ATP7A)	ENSP00000509373.1:p.Thr621=
ENST00000692110.1:c.1779A>T (ATP7A)	ENSP00000509366.1:p.Thr593=
ENST00000692908.1:c.1863A>T (ATP7A)	ENSP00000508627.1:p.Thr621=
ENST00000693387.1:c.*1792A>T (ATP7A)	ENSP00000508732.1:n.*1792A>T
ENST00000693398.1:c.1863A>T (ATP7A)	ENSP00000510089.1:p.Thr621=
ENST00000341514.11:c.1863A>T (ATP7A) MANE Select	ENSP00000345728.6:p.Thr621=
ENST00000644362.1:c.-20+98422A>T (PGK1)	ENSP00000496140.1:n.-20+98422A>T
ENST00000645094.1:c.*1777A>T (ATP7A)	ENSP00000493605.1:n.*1777A>T
ENST00000341514.10:c.1863A>T (ATP7A)	ENSP00000345728.6:p.Thr621=
ENST00000343533.9:c.1863A>T (ATP7A)	ENSP00000343026.5:p.Thr621=
ENST00000350425.5:c.*1036A>T (ATP7A)	ENSP00000343678.5:n.*1036A>T
NM_000052.6:c.1863A>T (ATP7A)	NP_000043.4:p.Thr621=
NM_001282224.1:c.1863A>T (ATP7A)	NP_001269153.1:p.Thr621=
NR_104109.1:n.322-22143A>T (ATP7A)
NM_000052.7:c.1863A>T (ATP7A) MANE Select	NP_000043.4:p.Thr621=
NR_104109.2:n.285-22143A>T (ATP7A)
NM_001282224.2:c.1863A>T (ATP7A)	NP_001269153.1:p.Thr621=