Canonical Allele Identifier: CA163225
Gene: DGAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 139512
ClinVar RCV Id: RCV000128413 RCV001266236 RCV001382858
dbSNP Id: rs148665132
ExAC: 8:145541756 A / G
gnomAD v2: 8-145541756-A-G
gnomAD v3: 8-144318093-A-G
gnomAD v4: 8-144318093-A-G
MyVariant Identifiers: chr8:g.145541756A>G (hg19) chr8:g.144318093A>G (hg38)
PubMed: PMID:23114594
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144318093A>G , CM000670.2:g.144318093A>G GRCh38
NC_000008.10:g.145541756A>G , CM000670.1:g.145541756A>G GRCh37
NC_000008.9:g.145512564A>G NCBI36
NG_034192.1:g.13827T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000528718.6:c.751+2T>C MANE Select ENSP00000482264.1:n.751+2T>C
ENST00000332324.5:c.676+168T>C ENSP00000332258.5:n.676+168T>C
ENST00000524844.1:n.136+2T>C
ENST00000524965.5:n.309+2T>C
ENST00000528718.5:c.751+2T>C ENSP00000482264.1:n.751+2T>C
ENST00000531896.5:n.880+2T>C
NM_012079.5:c.751+2T>C NP_036211.2:n.751+2T>C
XM_011517356.1:c.580+2T>C XP_011515658.1:n.580+2T>C
XM_011517356.3:c.580+2T>C XP_011515658.1:n.580+2T>C
NM_012079.6:c.751+2T>C MANE Select NP_036211.2:n.751+2T>C
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