Canonical Allele Identifier: CA397724067
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222756-T-A
MyVariant Identifiers: chr17:g.7126075T>A (hg19) chr17:g.7222756T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222756T>A , CM000679.2:g.7222756T>A GRCh38
NC_000017.10:g.7126075T>A , CM000679.1:g.7126075T>A GRCh37
NC_000017.9:g.7066799T>A NCBI36
NG_007975.1:g.7923T>A
NG_008391.2:g.2295A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.968T>A MANE Select ENSP00000349297.5:p.Leu323Gln
ENST00000322910.9:c.*923T>A ENSP00000325395.5:n.*923T>A
ENST00000350303.9:c.902T>A ENSP00000344152.5:p.Leu301Gln
ENST00000356839.9:c.968T>A ENSP00000349297.5:p.Leu323Gln
ENST00000543245.6:c.1037T>A ENSP00000438689.2:p.Leu346Gln
ENST00000578824.5:n.117T>A
ENST00000581378.5:c.686T>A
ENST00000582379.1:n.352T>A
NM_000018.3:c.968T>A NP_000009.1:p.Leu323Gln
NM_001033859.2:c.902T>A NP_001029031.1:p.Leu301Gln
NM_001270447.1:c.1037T>A NP_001257376.1:p.Leu346Gln
NM_001270448.1:c.740T>A NP_001257377.1:p.Leu247Gln
XM_006721516.2:c.968T>A XP_006721579.2:p.Leu323Gln
XM_011523829.1:c.968T>A XP_011522131.1:p.Leu323Gln
XM_011523830.1:c.968T>A XP_011522132.1:p.Leu323Gln
XR_934021.1:n.1075T>A
XR_934022.1:n.1075T>A
XR_934023.1:n.1075T>A
XM_006721516.3:c.968T>A XP_006721579.2:p.Leu323Gln
XM_011523829.2:c.968T>A XP_011522131.1:p.Leu323Gln
XM_011523830.2:c.968T>A XP_011522132.1:p.Leu323Gln
XM_024450741.1:c.968T>A XP_024306509.1:p.Leu323Gln
XR_934021.2:n.1027T>A
XR_934022.2:n.1027T>A
XR_934023.2:n.1027T>A
NM_000018.4:c.968T>A MANE Select NP_000009.1:p.Leu323Gln
NM_001033859.3:c.902T>A NP_001029031.1:p.Leu301Gln
NM_001270447.2:c.1037T>A NP_001257376.1:p.Leu346Gln
NM_001270448.2:c.740T>A NP_001257377.1:p.Leu247Gln
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