Canonical Allele Identifier: CA11148010
Gene: ABHD1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.27125161T>C
GRCh37 chr2:g.27348029T>C
gnomAD v2:
2:27348029 T / C
gnomAD v3:
2:27125161 T / C
gnomAD v4:
chr2-27125161-T-C
Joint Max Group AF 0.49581628 (AMR)
Genomes Max Group AF 0.49581628 (AMR)
Exomes Max Group AF 0.23726876 (NFE)
dbSNP:
4665947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27125161T>C , CM000664.2:g.27125161T>C GRCh38
NC_000002.11:g.27348029T>C , CM000664.1:g.27348029T>C GRCh37
NC_000002.10:g.27201533T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316470.9:c.114+1099T>C MANE Select ENSP00000326491.4:n.114+1099T>C
ENST00000316470.8:c.114+1099T>C ENSP00000326491.4:n.114+1099T>C
ENST00000416071.1:c.86+1099T>C ENSP00000397522.1:n.86+1099T>C
ENST00000420647.5:c.86+1099T>C ENSP00000390390.1:n.86+1099T>C
ENST00000448950.5:c.114+1099T>C ENSP00000410756.1:n.114+1099T>C
ENST00000489120.5:n.274+1099T>C
ENST00000621324.4:c.114+1099T>C ENSP00000481238.1:n.114+1099T>C
ENST00000622011.1:n.1307T>C
NM_032604.3:c.114+1099T>C NP_115993.3:n.114+1099T>C
XM_011533135.1:c.114+1099T>C XP_011531437.1:n.114+1099T>C
XM_011533136.1:c.114+1099T>C XP_011531438.1:n.114+1099T>C
XM_011533137.1:c.114+1099T>C XP_011531439.1:n.114+1099T>C
XM_011533138.1:c.86+1099T>C XP_011531440.1:n.86+1099T>C
XM_011533135.3:c.114+1099T>C XP_011531437.1:n.114+1099T>C
XM_011533136.3:c.114+1099T>C XP_011531438.1:n.114+1099T>C
XM_011533137.3:c.114+1099T>C XP_011531439.1:n.114+1099T>C
XM_011533138.3:c.86+1099T>C XP_011531440.1:n.86+1099T>C
XM_017005113.1:c.114+1099T>C XP_016860602.1:n.114+1099T>C
XM_024453179.1:c.86+1099T>C XP_024308947.1:n.86+1099T>C
XM_024453180.1:c.-271+1099T>C XP_024308948.1:n.-271+1099T>C
NM_032604.4:c.114+1099T>C MANE Select NP_115993.3:n.114+1099T>C
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