Canonical Allele Identifier: CA517081055

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78045504-C-T
• MyVariant Identifiers: chrX:g.77301001C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045504C>T , CM000685.2:g.78045504C>T	GRCh38
NC_000023.10:g.77301001C>T , CM000685.1:g.77301001C>T	GRCh37
NC_000023.9:g.77187657C>T	NCBI36
NG_013224.2:g.139808C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4188C>T (ATP7A)	ENSP00000343026.6:p.Pro1396=
ENST00000682475.1:n.2575C>T (ATP7A)
ENST00000685033.1:c.1422C>T (ATP7A)	ENSP00000509269.1:p.Pro474=
ENST00000685264.1:c.4158C>T (ATP7A)	ENSP00000510136.1:p.Pro1386=
ENST00000686033.1:c.3963C>T (ATP7A)	ENSP00000510693.1:p.Pro1321=
ENST00000686133.1:c.4158C>T (ATP7A)	ENSP00000509233.1:p.Pro1386=
ENST00000686255.1:n.3189C>T (ATP7A)
ENST00000686543.1:c.3924C>T (ATP7A)	ENSP00000509477.1:p.Pro1308=
ENST00000687086.1:c.4158C>T (ATP7A)	ENSP00000509566.1:p.Pro1386=
ENST00000689083.1:n.1453C>T (ATP7A)
ENST00000689767.1:c.4251C>T (ATP7A)	ENSP00000509406.1:p.Pro1417=
ENST00000692908.1:c.3924C>T (ATP7A)	ENSP00000508627.1:p.Pro1308=
ENST00000341514.11:c.4158C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Pro1386=
ENST00000644362.1:c.-19-64363C>T (PGK1)	ENSP00000496140.1:n.-19-64363C>T
ENST00000341514.10:c.4158C>T (ATP7A)	ENSP00000345728.6:p.Pro1386=
ENST00000343533.9:c.3924C>T (ATP7A)	ENSP00000343026.5:p.Pro1308=
ENST00000350425.5:c.*3331C>T (ATP7A)	ENSP00000343678.5:n.*3331C>T
NM_000052.6:c.4158C>T (ATP7A)	NP_000043.4:p.Pro1386=
NM_001282224.1:c.3924C>T (ATP7A)	NP_001269153.1:p.Pro1308=
NR_104109.1:n.1368C>T (ATP7A)
NM_000052.7:c.4158C>T (ATP7A) MANE Select	NP_000043.4:p.Pro1386=
NR_104109.2:n.1331C>T (ATP7A)
NM_001282224.2:c.3924C>T (ATP7A)	NP_001269153.1:p.Pro1308=