Canonical Allele Identifier: CA526701753

Gene: ATP1B1 NME7

Linked Data

• dbSNP Id: rs1258175786
• gnomAD v2: 1-169135172-G-A
• gnomAD v3: 1-169165934-G-A
• gnomAD v4: 1-169165934-G-A
• MyVariant Identifiers: chr1:g.169135172G>A (hg19) ; chr1:g.169165934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169165934G>A , CM000663.2:g.169165934G>A	GRCh38
NC_000001.10:g.169135172G>A , CM000663.1:g.169135172G>A	GRCh37
NC_000001.9:g.167401796G>A	NCBI36
NG_051763.1:g.207030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688755.1:c.928+11952G>A (ATP1B1)	ENSP00000508725.1:n.928+11952G>A
ENST00000367811.8:c.1098+3513C>T (NME7) MANE Select	ENSP00000356785.3:n.1098+3513C>T
ENST00000367811.7:c.1098+3513C>T (NME7)	ENSP00000356785.3:n.1098+3513C>T
ENST00000472647.5:c.990+3513C>T (NME7)	ENSP00000433341.1:n.990+3513C>T
ENST00000493481.1:n.137+3499C>T (NME7)
ENST00000525440.5:c.*141+3513C>T (NME7)	ENSP00000431467.1:n.*141+3513C>T
ENST00000530739.5:n.68+24709C>T (NME7)
NM_013330.4:c.1098+3513C>T (NME7)	NP_037462.1:n.1098+3513C>T
NM_197972.2:c.990+3513C>T (NME7)	NP_932076.1:n.990+3513C>T
NR_104229.1:n.1414+3513C>T (NME7)
XM_005245106.3:c.726+3513C>T (NME7)	XP_005245163.1:n.726+3513C>T
NM_013330.5:c.1098+3513C>T (NME7) MANE Select	NP_037462.1:n.1098+3513C>T
NM_197972.3:c.990+3513C>T (NME7)	NP_932076.1:n.990+3513C>T
NR_104229.2:n.1248+3513C>T (NME7)