Canonical Allele Identifier: CA256077

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 11795
• ClinVar RCV Id: RCV000012562 ; RCV000789728 ; RCV001206423 ; RCV001696176
• dbSNP Id: rs267606672
• MyVariant Identifiers: chrX:g.77300999C>T (hg19) ; chrX:g.78045502C>T (hg38)
• PubMed: PMID:19153371 ; PMID:20170900

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045502C>T , CM000685.2:g.78045502C>T	GRCh38
NC_000023.10:g.77300999C>T , CM000685.1:g.77300999C>T	GRCh37
NC_000023.9:g.77187655C>T	NCBI36
NG_013224.2:g.139806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.4186C>T (ATP7A)	ENSP00000343026.6:p.Pro1396Ser
ENST00000682475.1:n.2573C>T (ATP7A)
ENST00000685033.1:c.1420C>T (ATP7A)	ENSP00000509269.1:p.Pro474Ser
ENST00000685264.1:c.4156C>T (ATP7A)	ENSP00000510136.1:p.Pro1386Ser
ENST00000686033.1:c.3961C>T (ATP7A)	ENSP00000510693.1:p.Pro1321Ser
ENST00000686133.1:c.4156C>T (ATP7A)	ENSP00000509233.1:p.Pro1386Ser
ENST00000686255.1:n.3187C>T (ATP7A)
ENST00000686543.1:c.3922C>T (ATP7A)	ENSP00000509477.1:p.Pro1308Ser
ENST00000687086.1:c.4156C>T (ATP7A)	ENSP00000509566.1:p.Pro1386Ser
ENST00000689083.1:n.1451C>T (ATP7A)
ENST00000689767.1:c.4249C>T (ATP7A)	ENSP00000509406.1:p.Pro1417Ser
ENST00000692908.1:c.3922C>T (ATP7A)	ENSP00000508627.1:p.Pro1308Ser
ENST00000341514.11:c.4156C>T (ATP7A) MANE Select	ENSP00000345728.6:p.Pro1386Ser
ENST00000644362.1:c.-19-64365C>T (PGK1)	ENSP00000496140.1:n.-19-64365C>T
ENST00000341514.10:c.4156C>T (ATP7A)	ENSP00000345728.6:p.Pro1386Ser
ENST00000343533.9:c.3922C>T (ATP7A)	ENSP00000343026.5:p.Pro1308Ser
ENST00000350425.5:c.*3329C>T (ATP7A)	ENSP00000343678.5:n.*3329C>T
NM_000052.6:c.4156C>T (ATP7A)	NP_000043.4:p.Pro1386Ser
NM_001282224.1:c.3922C>T (ATP7A)	NP_001269153.1:p.Pro1308Ser
NR_104109.1:n.1366C>T (ATP7A)
NM_000052.7:c.4156C>T (ATP7A) MANE Select	NP_000043.4:p.Pro1386Ser
NR_104109.2:n.1329C>T (ATP7A)
NM_001282224.2:c.3922C>T (ATP7A)	NP_001269153.1:p.Pro1308Ser