Canonical Allele Identifier: CA397723260
Gene: ACADVL HGNC NCBI

Linked Data

COSMIC: COSM1385930
MyVariant Identifiers: chr17:g.7124983C>A (hg19) chr17:g.7221664C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221664C>A , CM000679.2:g.7221664C>A GRCh38
NC_000017.10:g.7124983C>A , CM000679.1:g.7124983C>A GRCh37
NC_000017.9:g.7065707C>A NCBI36
NG_007975.1:g.6831C>A
NG_008391.2:g.3387G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.604C>A MANE Select ENSP00000349297.5:p.Leu202Ile
ENST00000322910.9:c.*559C>A ENSP00000325395.5:n.*559C>A
ENST00000350303.9:c.538C>A ENSP00000344152.5:p.Leu180Ile
ENST00000356839.9:c.604C>A ENSP00000349297.5:p.Leu202Ile
ENST00000543245.6:c.673C>A ENSP00000438689.2:p.Leu225Ile
ENST00000577191.5:n.681C>A
ENST00000577857.5:n.420C>A
ENST00000579286.5:n.785C>A
ENST00000579886.2:c.442C>A ENSP00000463246.1:p.Leu148Ile
ENST00000580365.1:n.335C>A
ENST00000581378.5:c.322C>A
ENST00000581562.5:n.525-288C>A
ENST00000583312.5:c.604C>A ENSP00000467920.1:p.Leu202Ile
ENST00000583760.1:n.386C>A
NM_000018.3:c.604C>A NP_000009.1:p.Leu202Ile
NM_001033859.2:c.538C>A NP_001029031.1:p.Leu180Ile
NM_001270447.1:c.673C>A NP_001257376.1:p.Leu225Ile
NM_001270448.1:c.376C>A NP_001257377.1:p.Leu126Ile
XM_006721516.2:c.604C>A XP_006721579.2:p.Leu202Ile
XM_011523829.1:c.604C>A XP_011522131.1:p.Leu202Ile
XM_011523830.1:c.604C>A XP_011522132.1:p.Leu202Ile
XR_934021.1:n.711C>A
XR_934022.1:n.711C>A
XR_934023.1:n.711C>A
XM_006721516.3:c.604C>A XP_006721579.2:p.Leu202Ile
XM_011523829.2:c.604C>A XP_011522131.1:p.Leu202Ile
XM_011523830.2:c.604C>A XP_011522132.1:p.Leu202Ile
XM_024450741.1:c.604C>A XP_024306509.1:p.Leu202Ile
XR_934021.2:n.663C>A
XR_934022.2:n.663C>A
XR_934023.2:n.663C>A
NM_000018.4:c.604C>A MANE Select NP_000009.1:p.Leu202Ile
NM_001033859.3:c.538C>A NP_001029031.1:p.Leu180Ile
NM_001270447.2:c.673C>A NP_001257376.1:p.Leu225Ile
NM_001270448.2:c.376C>A NP_001257377.1:p.Leu126Ile
Search 100 bp 5'
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