Canonical Allele Identifier: CA517073647

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1666272
• ClinVar RCV Id: RCV002203415
• dbSNP Id: rs2149107179
• MyVariant Identifiers: chrX:g.77289165T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033667T>A , CM000685.2:g.78033667T>A	GRCh38
NC_000023.10:g.77289165T>A , CM000685.1:g.77289165T>A	GRCh37
NC_000023.9:g.77175821T>A	NCBI36
NG_013224.2:g.127971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3387T>A (ATP7A)	ENSP00000343026.6:p.Ile1129=
ENST00000682475.1:n.1774T>A (ATP7A)
ENST00000685033.1:c.621T>A (ATP7A)	ENSP00000509269.1:p.Ile207=
ENST00000685264.1:c.3357T>A (ATP7A)	ENSP00000510136.1:p.Ile1119=
ENST00000686033.1:c.3162T>A (ATP7A)	ENSP00000510693.1:p.Ile1054=
ENST00000686133.1:c.3357T>A (ATP7A)	ENSP00000509233.1:p.Ile1119=
ENST00000686255.1:n.2388T>A (ATP7A)
ENST00000686543.1:c.3123T>A (ATP7A)	ENSP00000509477.1:p.Ile1041=
ENST00000687086.1:c.3357T>A (ATP7A)	ENSP00000509566.1:p.Ile1119=
ENST00000689514.1:n.1399T>A (ATP7A)
ENST00000689767.1:c.3450T>A (ATP7A)	ENSP00000509406.1:p.Ile1150=
ENST00000692908.1:c.3123T>A (ATP7A)	ENSP00000508627.1:p.Ile1041=
ENST00000341514.11:c.3357T>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ile1119=
ENST00000644362.1:c.-19-76200T>A (PGK1)	ENSP00000496140.1:n.-19-76200T>A
ENST00000645094.1:c.*3271T>A (ATP7A)	ENSP00000493605.1:n.*3271T>A
ENST00000341514.10:c.3357T>A (ATP7A)	ENSP00000345728.6:p.Ile1119=
ENST00000343533.9:c.3123T>A (ATP7A)	ENSP00000343026.5:p.Ile1041=
ENST00000350425.5:c.*2530T>A (ATP7A)	ENSP00000343678.5:n.*2530T>A
NM_000052.6:c.3357T>A (ATP7A)	NP_000043.4:p.Ile1119=
NM_001282224.1:c.3123T>A (ATP7A)	NP_001269153.1:p.Ile1041=
NR_104109.1:n.567T>A (ATP7A)
NM_000052.7:c.3357T>A (ATP7A) MANE Select	NP_000043.4:p.Ile1119=
NR_104109.2:n.530T>A (ATP7A)
NM_001282224.2:c.3123T>A (ATP7A)	NP_001269153.1:p.Ile1041=