Canonical Allele Identifier: CA1509632
Gene: ACP1 HGNC NCBI
SCARNA10 HGNC NCBI

Linked Data

dbSNP Id: rs11553742
gnomAD v2: 2-272051-C-T
gnomAD v3: 2-272051-C-T
gnomAD v4: 2-272051-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.272051C>T , CM000664.2:g.272051C>T GRCh38
NC_000002.11:g.272051C>T , CM000664.1:g.272051C>T GRCh37
NC_000002.10:g.262051C>T NCBI36
NG_012035.1:g.12183C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272067.11:c.117+112C>T (ACP1) ENSP00000272067.6:n.117+112C>T
ENST00000272065.10:c.132C>T (ACP1) MANE Select ENSP00000272065.5:p.Ser44=
ENST00000272065.9:c.132C>T (ACP1) ENSP00000272065.5:p.Ser44=
ENST00000272067.10:c.117+112C>T (ACP1) ENSP00000272067.6:n.117+112C>T
ENST00000405233.5:c.132C>T (ACP1) ENSP00000384307.1:p.Ser44=
ENST00000405364.2:c.*38C>T (ACP1) ENSP00000384184.2:n.*38C>T
ENST00000407983.7:c.132C>T (ACP1) ENSP00000385404.3:p.Ser44=
ENST00000413140.5:c.132C>T (ACP1) ENSP00000410331.1:p.Ser44=
ENST00000439645.6:c.117+112C>T (ACP1) ENSP00000408596.2:n.117+112C>T
ENST00000442386.5:c.*38C>T (ACP1) ENSP00000389681.1:n.*38C>T
ENST00000453390.5:c.132C>T (ACP1) ENSP00000411121.1:p.Ser44=
ENST00000480874.5:n.161C>T (ACP1)
ENST00000484464.5:n.163C>T (ACP1)
NM_001040649.2:c.132C>T (SCARNA10) NP_001035739.1:p.Ser44=
NM_004300.3:c.132C>T (SCARNA10) NP_004291.1:p.Ser44=
NM_007099.3:c.117+112C>T (SCARNA10) NP_009030.1:n.117+112C>T
NR_024080.1:n.228C>T (SCARNA10)
XM_011510363.1:c.117+112C>T (SCARNA10) XP_011508665.1:n.117+112C>T
XR_922680.1:n.733C>T (SCARNA10)
XR_001738777.1:n.197C>T (SCARNA10)
NM_004300.4:c.132C>T (SCARNA10) MANE Select NP_004291.1:p.Ser44=
NM_001040649.3:c.132C>T (SCARNA10) NP_001035739.1:p.Ser44=
NM_007099.4:c.117+112C>T (SCARNA10) NP_009030.1:n.117+112C>T
NR_024080.2:n.150C>T (SCARNA10)