Canonical Allele Identifier: CA287436384
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1025777149
MyVariant Identifiers: chr17:g.7124925G>A (hg19) chr17:g.7221606G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221606G>A , CM000679.2:g.7221606G>A GRCh38
NC_000017.10:g.7124925G>A , CM000679.1:g.7124925G>A GRCh37
NC_000017.9:g.7065649G>A NCBI36
NG_007975.1:g.6773G>A
NG_008391.2:g.3445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.546G>A MANE Select ENSP00000349297.5:p.Gln182=
ENST00000322910.9:c.*501G>A ENSP00000325395.5:n.*501G>A
ENST00000350303.9:c.480G>A ENSP00000344152.5:p.Gln160=
ENST00000356839.9:c.546G>A ENSP00000349297.5:p.Gln182=
ENST00000543245.6:c.615G>A ENSP00000438689.2:p.Gln205=
ENST00000577191.5:n.623G>A
ENST00000577433.5:n.754G>A
ENST00000577857.5:n.362G>A
ENST00000579286.5:n.727G>A
ENST00000579886.2:c.384G>A ENSP00000463246.1:p.Gln128=
ENST00000580365.1:n.277G>A
ENST00000581378.5:c.264G>A
ENST00000581562.5:n.525-346G>A
ENST00000582166.1:n.527G>A
ENST00000583312.5:c.546G>A ENSP00000467920.1:p.Gln182=
ENST00000583760.1:n.328G>A
NM_000018.3:c.546G>A NP_000009.1:p.Gln182=
NM_001033859.2:c.480G>A NP_001029031.1:p.Gln160=
NM_001270447.1:c.615G>A NP_001257376.1:p.Gln205=
NM_001270448.1:c.318G>A NP_001257377.1:p.Gln106=
XM_006721516.2:c.546G>A XP_006721579.2:p.Gln182=
XM_011523829.1:c.546G>A XP_011522131.1:p.Gln182=
XM_011523830.1:c.546G>A XP_011522132.1:p.Gln182=
XR_934021.1:n.653G>A
XR_934022.1:n.653G>A
XR_934023.1:n.653G>A
XM_006721516.3:c.546G>A XP_006721579.2:p.Gln182=
XM_011523829.2:c.546G>A XP_011522131.1:p.Gln182=
XM_011523830.2:c.546G>A XP_011522132.1:p.Gln182=
XM_024450741.1:c.546G>A XP_024306509.1:p.Gln182=
XR_934021.2:n.605G>A
XR_934022.2:n.605G>A
XR_934023.2:n.605G>A
NM_000018.4:c.546G>A MANE Select NP_000009.1:p.Gln182=
NM_001033859.3:c.480G>A NP_001029031.1:p.Gln160=
NM_001270447.2:c.615G>A NP_001257376.1:p.Gln205=
NM_001270448.2:c.318G>A NP_001257377.1:p.Gln106=
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