Canonical Allele Identifier: CA41305667

Gene: ACP1 SCARNA10

Linked Data

• dbSNP Id: rs561869785
• gnomAD v2: 2-272950-T-A
• gnomAD v3: 2-272950-T-A
• gnomAD v4: 2-272950-T-A
• MyVariant Identifiers: chr2:g.272950T>A (hg19) ; chr2:g.272950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.272950T>A , CM000664.2:g.272950T>A	GRCh38
NC_000002.11:g.272950T>A , CM000664.1:g.272950T>A	GRCh37
NC_000002.10:g.262950T>A	NCBI36
NG_012035.1:g.13082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272067.11:c.231+645T>A (ACP1)	ENSP00000272067.6:n.231+645T>A
ENST00000272065.10:c.231+800T>A (ACP1) MANE Select	ENSP00000272065.5:n.231+800T>A
ENST00000272065.9:c.231+800T>A (ACP1)	ENSP00000272065.5:n.231+800T>A
ENST00000272067.10:c.231+645T>A (ACP1)	ENSP00000272067.6:n.231+645T>A
ENST00000405233.5:c.*692T>A (ACP1)	ENSP00000384307.1:n.*692T>A
ENST00000405364.2:c.*166+645T>A (ACP1)	ENSP00000384184.2:n.*166+645T>A
ENST00000413140.5:c.231+800T>A (ACP1)	ENSP00000410331.1:n.231+800T>A
ENST00000442386.5:c.*137+800T>A (ACP1)	ENSP00000389681.1:n.*137+800T>A
ENST00000453390.5:c.260+645T>A (ACP1)	ENSP00000411121.1:n.260+645T>A
ENST00000480874.5:n.260+800T>A (ACP1)
ENST00000484464.5:n.262+800T>A (ACP1)
NM_004300.3:c.231+800T>A (SCARNA10)	NP_004291.1:n.231+800T>A
NM_007099.3:c.231+645T>A (SCARNA10)	NP_009030.1:n.231+645T>A
NR_024080.1:n.356+645T>A (SCARNA10)
XM_011510363.1:c.231+645T>A (SCARNA10)	XP_011508665.1:n.231+645T>A
XR_922680.1:n.987+645T>A (SCARNA10)
XR_001738777.1:n.451+645T>A (SCARNA10)
NM_004300.4:c.231+800T>A (SCARNA10) MANE Select	NP_004291.1:n.231+800T>A
NM_007099.4:c.231+645T>A (SCARNA10)	NP_009030.1:n.231+645T>A
NR_024080.2:n.278+645T>A (SCARNA10)