Canonical Allele Identifier: CA397723231
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124971A>T (hg19) chr17:g.7221652A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221652A>T , CM000679.2:g.7221652A>T GRCh38
NC_000017.10:g.7124971A>T , CM000679.1:g.7124971A>T GRCh37
NC_000017.9:g.7065695A>T NCBI36
NG_007975.1:g.6819A>T
NG_008391.2:g.3399T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.592A>T MANE Select ENSP00000349297.5:p.Lys198Ter
ENST00000322910.9:c.*547A>T ENSP00000325395.5:n.*547A>T
ENST00000350303.9:c.526A>T ENSP00000344152.5:p.Lys176Ter
ENST00000356839.9:c.592A>T ENSP00000349297.5:p.Lys198Ter
ENST00000543245.6:c.661A>T ENSP00000438689.2:p.Lys221Ter
ENST00000577191.5:n.669A>T
ENST00000577433.5:n.800A>T
ENST00000577857.5:n.408A>T
ENST00000579286.5:n.773A>T
ENST00000579886.2:c.430A>T ENSP00000463246.1:p.Lys144Ter
ENST00000580365.1:n.323A>T
ENST00000581378.5:c.310A>T
ENST00000581562.5:n.525-300A>T
ENST00000583312.5:c.592A>T ENSP00000467920.1:p.Lys198Ter
ENST00000583760.1:n.374A>T
NM_000018.3:c.592A>T NP_000009.1:p.Lys198Ter
NM_001033859.2:c.526A>T NP_001029031.1:p.Lys176Ter
NM_001270447.1:c.661A>T NP_001257376.1:p.Lys221Ter
NM_001270448.1:c.364A>T NP_001257377.1:p.Lys122Ter
XM_006721516.2:c.592A>T XP_006721579.2:p.Lys198Ter
XM_011523829.1:c.592A>T XP_011522131.1:p.Lys198Ter
XM_011523830.1:c.592A>T XP_011522132.1:p.Lys198Ter
XR_934021.1:n.699A>T
XR_934022.1:n.699A>T
XR_934023.1:n.699A>T
XM_006721516.3:c.592A>T XP_006721579.2:p.Lys198Ter
XM_011523829.2:c.592A>T XP_011522131.1:p.Lys198Ter
XM_011523830.2:c.592A>T XP_011522132.1:p.Lys198Ter
XM_024450741.1:c.592A>T XP_024306509.1:p.Lys198Ter
XR_934021.2:n.651A>T
XR_934022.2:n.651A>T
XR_934023.2:n.651A>T
NM_000018.4:c.592A>T MANE Select NP_000009.1:p.Lys198Ter
NM_001033859.3:c.526A>T NP_001029031.1:p.Lys176Ter
NM_001270447.2:c.661A>T NP_001257376.1:p.Lys221Ter
NM_001270448.2:c.364A>T NP_001257377.1:p.Lys122Ter
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