Canonical Allele Identifier: CA413605894

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78045547-G-T
• MyVariant Identifiers: chrX:g.77301044G>T (hg19) ; chrX:g.78045547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045547G>T , CM000685.2:g.78045547G>T	GRCh38
NC_000023.10:g.77301044G>T , CM000685.1:g.77301044G>T	GRCh37
NC_000023.9:g.77187700G>T	NCBI36
NG_013224.2:g.139851G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.4231G>T (ATP7A)	ENSP00000343026.6:p.Val1411Leu
ENST00000682475.1:n.2618G>T (ATP7A)
ENST00000685033.1:c.1465G>T (ATP7A)	ENSP00000509269.1:p.Val489Leu
ENST00000685264.1:c.4201G>T (ATP7A)	ENSP00000510136.1:p.Val1401Leu
ENST00000686033.1:c.4006G>T (ATP7A)	ENSP00000510693.1:p.Val1336Leu
ENST00000686133.1:c.4201G>T (ATP7A)	ENSP00000509233.1:p.Val1401Leu
ENST00000686255.1:n.3232G>T (ATP7A)
ENST00000686543.1:c.3967G>T (ATP7A)	ENSP00000509477.1:p.Val1323Leu
ENST00000687086.1:c.4201G>T (ATP7A)	ENSP00000509566.1:p.Val1401Leu
ENST00000689083.1:n.1496G>T (ATP7A)
ENST00000689767.1:c.4294G>T (ATP7A)	ENSP00000509406.1:p.Val1432Leu
ENST00000692908.1:c.3967G>T (ATP7A)	ENSP00000508627.1:p.Val1323Leu
ENST00000341514.11:c.4201G>T (ATP7A) MANE Select	ENSP00000345728.6:p.Val1401Leu
ENST00000644362.1:c.-19-64320G>T (PGK1)	ENSP00000496140.1:n.-19-64320G>T
ENST00000341514.10:c.4201G>T (ATP7A)	ENSP00000345728.6:p.Val1401Leu
ENST00000343533.9:c.3967G>T (ATP7A)	ENSP00000343026.5:p.Val1323Leu
ENST00000350425.5:c.*3374G>T (ATP7A)	ENSP00000343678.5:n.*3374G>T
NM_000052.6:c.4201G>T (ATP7A)	NP_000043.4:p.Val1401Leu
NM_001282224.1:c.3967G>T (ATP7A)	NP_001269153.1:p.Val1323Leu
NR_104109.1:n.1411G>T (ATP7A)
NM_000052.7:c.4201G>T (ATP7A) MANE Select	NP_000043.4:p.Val1401Leu
NR_104109.2:n.1374G>T (ATP7A)
NM_001282224.2:c.3967G>T (ATP7A)	NP_001269153.1:p.Val1323Leu