Canonical Allele Identifier: CA287437684
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1051701
gnomAD v2: 17-7126182-G-T
MyVariant Identifiers: chr17:g.7126182G>T (hg19) chr17:g.7222863G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222863G>T , CM000679.2:g.7222863G>T GRCh38
NC_000017.10:g.7126182G>T , CM000679.1:g.7126182G>T GRCh37
NC_000017.9:g.7066906G>T NCBI36
NG_007975.1:g.8030G>T
NG_008391.2:g.2188C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1075G>T MANE Select ENSP00000349297.5:p.Ala359Ser
ENST00000322910.9:c.*1030G>T ENSP00000325395.5:n.*1030G>T
ENST00000350303.9:c.1009G>T ENSP00000344152.5:p.Ala337Ser
ENST00000356839.9:c.1075G>T ENSP00000349297.5:p.Ala359Ser
ENST00000543245.6:c.1144G>T ENSP00000438689.2:p.Ala382Ser
ENST00000578824.5:n.224G>T
ENST00000582379.1:n.459G>T
ENST00000583858.5:c.104G>T
ENST00000585203.6:n.16G>T
NM_000018.3:c.1075G>T NP_000009.1:p.Ala359Ser
NM_001033859.2:c.1009G>T NP_001029031.1:p.Ala337Ser
NM_001270447.1:c.1144G>T NP_001257376.1:p.Ala382Ser
NM_001270448.1:c.847G>T NP_001257377.1:p.Ala283Ser
XM_006721516.2:c.1075G>T XP_006721579.2:p.Ala359Ser
XM_011523829.1:c.1075G>T XP_011522131.1:p.Ala359Ser
XM_011523830.1:c.1075G>T XP_011522132.1:p.Ala359Ser
XR_934021.1:n.1182G>T
XR_934022.1:n.1182G>T
XR_934023.1:n.1182G>T
XM_006721516.3:c.1075G>T XP_006721579.2:p.Ala359Ser
XM_011523829.2:c.1075G>T XP_011522131.1:p.Ala359Ser
XM_011523830.2:c.1075G>T XP_011522132.1:p.Ala359Ser
XM_024450741.1:c.1075G>T XP_024306509.1:p.Ala359Ser
XR_934021.2:n.1134G>T
XR_934022.2:n.1134G>T
XR_934023.2:n.1134G>T
NM_000018.4:c.1075G>T MANE Select NP_000009.1:p.Ala359Ser
NM_001033859.3:c.1009G>T NP_001029031.1:p.Ala337Ser
NM_001270447.2:c.1144G>T NP_001257376.1:p.Ala382Ser
NM_001270448.2:c.847G>T NP_001257377.1:p.Ala283Ser
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