Canonical Allele Identifier: CA413605819

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1464654
• ClinVar RCV Id: RCV001956945
• dbSNP Id: rs2149113528
• MyVariant Identifiers: chrX:g.77301007G>A (hg19) ; chrX:g.78045510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045510G>A , CM000685.2:g.78045510G>A	GRCh38
NC_000023.10:g.77301007G>A , CM000685.1:g.77301007G>A	GRCh37
NC_000023.9:g.77187663G>A	NCBI36
NG_013224.2:g.139814G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.4194G>A (ATP7A)	ENSP00000343026.6:p.Met1398Ile
ENST00000682475.1:n.2581G>A (ATP7A)
ENST00000685033.1:c.1428G>A (ATP7A)	ENSP00000509269.1:p.Met476Ile
ENST00000685264.1:c.4164G>A (ATP7A)	ENSP00000510136.1:p.Met1388Ile
ENST00000686033.1:c.3969G>A (ATP7A)	ENSP00000510693.1:p.Met1323Ile
ENST00000686133.1:c.4164G>A (ATP7A)	ENSP00000509233.1:p.Met1388Ile
ENST00000686255.1:n.3195G>A (ATP7A)
ENST00000686543.1:c.3930G>A (ATP7A)	ENSP00000509477.1:p.Met1310Ile
ENST00000687086.1:c.4164G>A (ATP7A)	ENSP00000509566.1:p.Met1388Ile
ENST00000689083.1:n.1459G>A (ATP7A)
ENST00000689767.1:c.4257G>A (ATP7A)	ENSP00000509406.1:p.Met1419Ile
ENST00000692908.1:c.3930G>A (ATP7A)	ENSP00000508627.1:p.Met1310Ile
ENST00000341514.11:c.4164G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Met1388Ile
ENST00000644362.1:c.-19-64357G>A (PGK1)	ENSP00000496140.1:n.-19-64357G>A
ENST00000341514.10:c.4164G>A (ATP7A)	ENSP00000345728.6:p.Met1388Ile
ENST00000343533.9:c.3930G>A (ATP7A)	ENSP00000343026.5:p.Met1310Ile
ENST00000350425.5:c.*3337G>A (ATP7A)	ENSP00000343678.5:n.*3337G>A
NM_000052.6:c.4164G>A (ATP7A)	NP_000043.4:p.Met1388Ile
NM_001282224.1:c.3930G>A (ATP7A)	NP_001269153.1:p.Met1310Ile
NR_104109.1:n.1374G>A (ATP7A)
NM_000052.7:c.4164G>A (ATP7A) MANE Select	NP_000043.4:p.Met1388Ile
NR_104109.2:n.1337G>A (ATP7A)
NM_001282224.2:c.3930G>A (ATP7A)	NP_001269153.1:p.Met1310Ile