Canonical Allele Identifier: CA397725255
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224210-T-A
MyVariant Identifiers: chr17:g.7127529T>A (hg19) chr17:g.7224210T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224210T>A , CM000679.2:g.7224210T>A GRCh38
NC_000017.10:g.7127529T>A , CM000679.1:g.7127529T>A GRCh37
NC_000017.9:g.7068253T>A NCBI36
NG_007975.1:g.9377T>A
NG_008391.2:g.841A>T
NG_033038.1:g.15335A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1499T>A MANE Select ENSP00000349297.5:p.Leu500His
ENST00000322910.9:c.*1454T>A ENSP00000325395.5:n.*1454T>A
ENST00000350303.9:c.1433T>A ENSP00000344152.5:p.Leu478His
ENST00000356839.9:c.1499T>A ENSP00000349297.5:p.Leu500His
ENST00000542255.6:c.357T>A
ENST00000543245.6:c.1568T>A ENSP00000438689.2:p.Leu523His
ENST00000578711.1:n.706T>A
ENST00000579391.1:n.107T>A
ENST00000579425.5:n.615T>A
ENST00000579546.1:c.272-111T>A
ENST00000579894.5:n.286T>A
ENST00000583074.5:n.154-111T>A
ENST00000583850.5:n.274T>A
ENST00000583858.5:c.464-111T>A
ENST00000585203.6:n.690T>A
NM_000018.3:c.1499T>A NP_000009.1:p.Leu500His
NM_001033859.2:c.1433T>A NP_001029031.1:p.Leu478His
NM_001270447.1:c.1568T>A NP_001257376.1:p.Leu523His
NM_001270448.1:c.1271T>A NP_001257377.1:p.Leu424His
XM_006721516.2:c.1499T>A XP_006721579.2:p.Leu500His
XM_011523829.1:c.1435-111T>A XP_011522131.1:n.1435-111T>A
XM_011523830.1:c.1435-111T>A XP_011522132.1:n.1435-111T>A
XR_934021.1:n.1606T>A
XR_934022.1:n.1542-111T>A
XR_934023.1:n.1542-111T>A
XM_006721516.3:c.1499T>A XP_006721579.2:p.Leu500His
XM_011523829.2:c.1435-111T>A XP_011522131.1:n.1435-111T>A
XM_011523830.2:c.1435-111T>A XP_011522132.1:n.1435-111T>A
XM_024450741.1:c.1435-111T>A XP_024306509.1:n.1435-111T>A
XR_934021.2:n.1558T>A
XR_934022.2:n.1494-111T>A
XR_934023.2:n.1494-111T>A
NM_000018.4:c.1499T>A MANE Select NP_000009.1:p.Leu500His
NM_001033859.3:c.1433T>A NP_001029031.1:p.Leu478His
NM_001270447.2:c.1568T>A NP_001257376.1:p.Leu523His
NM_001270448.2:c.1271T>A NP_001257377.1:p.Leu424His
Search 100 bp 5'
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