Canonical Allele Identifier: CA2694152240

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78021095-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021095T>C , CM000685.2:g.78021095T>C	GRCh38
NC_000023.10:g.77276592T>C , CM000685.1:g.77276592T>C	GRCh37
NC_000023.9:g.77163248T>C	NCBI36
NG_013224.2:g.115399T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2946+16T>C (ATP7A)	ENSP00000343026.6:n.2946+16T>C
ENST00000682475.1:n.1333+16T>C (ATP7A)
ENST00000685033.1:c.375+697T>C (ATP7A)	ENSP00000509269.1:n.375+697T>C
ENST00000685264.1:c.2916+16T>C (ATP7A)	ENSP00000510136.1:n.2916+16T>C
ENST00000686033.1:c.2916+16T>C (ATP7A)	ENSP00000510693.1:n.2916+16T>C
ENST00000686133.1:c.2916+16T>C (ATP7A)	ENSP00000509233.1:n.2916+16T>C
ENST00000686255.1:n.1947+16T>C (ATP7A)
ENST00000686543.1:c.2682+16T>C (ATP7A)	ENSP00000509477.1:n.2682+16T>C
ENST00000687086.1:c.2916+16T>C (ATP7A)	ENSP00000509566.1:n.2916+16T>C
ENST00000689514.1:n.958+16T>C (ATP7A)
ENST00000689767.1:c.3009+16T>C (ATP7A)	ENSP00000509406.1:n.3009+16T>C
ENST00000692908.1:c.2682+16T>C (ATP7A)	ENSP00000508627.1:n.2682+16T>C
ENST00000341514.11:c.2916+16T>C (ATP7A) MANE Select	ENSP00000345728.6:n.2916+16T>C
ENST00000644362.1:c.-19-88772T>C (PGK1)	ENSP00000496140.1:n.-19-88772T>C
ENST00000645094.1:c.*2830+16T>C (ATP7A)	ENSP00000493605.1:n.*2830+16T>C
ENST00000341514.10:c.2916+16T>C (ATP7A)	ENSP00000345728.6:n.2916+16T>C
ENST00000343533.9:c.2682+16T>C (ATP7A)	ENSP00000343026.5:n.2682+16T>C
ENST00000350425.5:c.*2089+16T>C (ATP7A)	ENSP00000343678.5:n.*2089+16T>C
NM_000052.6:c.2916+16T>C (ATP7A)	NP_000043.4:n.2916+16T>C
NM_001282224.1:c.2682+16T>C (ATP7A)	NP_001269153.1:n.2682+16T>C
NR_104109.1:n.322-10305T>C (ATP7A)
NM_000052.7:c.2916+16T>C (ATP7A) MANE Select	NP_000043.4:n.2916+16T>C
NR_104109.2:n.285-10305T>C (ATP7A)
NM_001282224.2:c.2682+16T>C (ATP7A)	NP_001269153.1:n.2682+16T>C