Canonical Allele Identifier: CA397723894
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1764839
dbSNP Id: rs1327386820
gnomAD v2: 17-7125990-C-T
gnomAD v3: 17-7222671-C-T
gnomAD v4: 17-7222671-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222671C>T , CM000679.2:g.7222671C>T GRCh38
NC_000017.10:g.7125990C>T , CM000679.1:g.7125990C>T GRCh37
NC_000017.9:g.7066714C>T NCBI36
NG_007975.1:g.7838C>T
NG_008391.2:g.2380G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.883C>T MANE Select ENSP00000349297.5:p.Pro295Ser
ENST00000322910.9:c.*838C>T ENSP00000325395.5:n.*838C>T
ENST00000350303.9:c.817C>T ENSP00000344152.5:p.Pro273Ser
ENST00000356839.9:c.883C>T ENSP00000349297.5:p.Pro295Ser
ENST00000543245.6:c.952C>T ENSP00000438689.2:p.Pro318Ser
ENST00000578824.5:n.32C>T
ENST00000581378.5:c.601C>T
ENST00000582379.1:n.267C>T
NM_000018.3:c.883C>T NP_000009.1:p.Pro295Ser
NM_001033859.2:c.817C>T NP_001029031.1:p.Pro273Ser
NM_001270447.1:c.952C>T NP_001257376.1:p.Pro318Ser
NM_001270448.1:c.655C>T NP_001257377.1:p.Pro219Ser
XM_006721516.2:c.883C>T XP_006721579.2:p.Pro295Ser
XM_011523829.1:c.883C>T XP_011522131.1:p.Pro295Ser
XM_011523830.1:c.883C>T XP_011522132.1:p.Pro295Ser
XR_934021.1:n.990C>T
XR_934022.1:n.990C>T
XR_934023.1:n.990C>T
XM_006721516.3:c.883C>T XP_006721579.2:p.Pro295Ser
XM_011523829.2:c.883C>T XP_011522131.1:p.Pro295Ser
XM_011523830.2:c.883C>T XP_011522132.1:p.Pro295Ser
XM_024450741.1:c.883C>T XP_024306509.1:p.Pro295Ser
XR_934021.2:n.942C>T
XR_934022.2:n.942C>T
XR_934023.2:n.942C>T
NM_000018.4:c.883C>T MANE Select NP_000009.1:p.Pro295Ser
NM_001033859.3:c.817C>T NP_001029031.1:p.Pro273Ser
NM_001270447.2:c.952C>T NP_001257376.1:p.Pro318Ser
NM_001270448.2:c.655C>T NP_001257377.1:p.Pro219Ser