Canonical Allele Identifier: CA397722829

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124301A>T (hg19) ; chr17:g.7220982A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220982A>T , CM000679.2:g.7220982A>T	GRCh38
NC_000017.10:g.7124301A>T , CM000679.1:g.7124301A>T	GRCh37
NC_000017.9:g.7065025A>T	NCBI36
NG_007975.1:g.6149A>T
NG_008391.2:g.4069T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.401A>T MANE Select	ENSP00000349297.5:p.Gln134Leu
ENST00000322910.9:c.*356A>T	ENSP00000325395.5:n.*356A>T
ENST00000350303.9:c.335A>T	ENSP00000344152.5:p.Gln112Leu
ENST00000356839.9:c.401A>T	ENSP00000349297.5:p.Gln134Leu
ENST00000543245.6:c.470A>T	ENSP00000438689.2:p.Gln157Leu
ENST00000577191.5:n.478A>T
ENST00000577433.5:n.609A>T
ENST00000577857.5:n.293+152A>T
ENST00000579286.5:n.582A>T
ENST00000579886.2:c.239A>T	ENSP00000463246.1:p.Gln80Leu
ENST00000580365.1:n.132A>T
ENST00000581378.5:c.100A>T
ENST00000581562.5:n.448A>T
ENST00000582056.5:n.584A>T
ENST00000582166.1:n.382A>T
ENST00000583312.5:c.401A>T	ENSP00000467920.1:p.Gln134Leu
ENST00000584103.5:c.434A>T	ENSP00000465353.1:p.Gln145Leu
NM_000018.3:c.401A>T	NP_000009.1:p.Gln134Leu
NM_001033859.2:c.335A>T	NP_001029031.1:p.Gln112Leu
NM_001270447.1:c.470A>T	NP_001257376.1:p.Gln157Leu
NM_001270448.1:c.173A>T	NP_001257377.1:p.Gln58Leu
XM_006721516.2:c.401A>T	XP_006721579.2:p.Gln134Leu
XM_011523829.1:c.401A>T	XP_011522131.1:p.Gln134Leu
XM_011523830.1:c.401A>T	XP_011522132.1:p.Gln134Leu
XR_934021.1:n.508A>T
XR_934022.1:n.508A>T
XR_934023.1:n.508A>T
XM_006721516.3:c.401A>T	XP_006721579.2:p.Gln134Leu
XM_011523829.2:c.401A>T	XP_011522131.1:p.Gln134Leu
XM_011523830.2:c.401A>T	XP_011522132.1:p.Gln134Leu
XM_024450741.1:c.401A>T	XP_024306509.1:p.Gln134Leu
XR_934021.2:n.460A>T
XR_934022.2:n.460A>T
XR_934023.2:n.460A>T
NM_000018.4:c.401A>T MANE Select	NP_000009.1:p.Gln134Leu
NM_001033859.3:c.335A>T	NP_001029031.1:p.Gln112Leu
NM_001270447.2:c.470A>T	NP_001257376.1:p.Gln157Leu
NM_001270448.2:c.173A>T	NP_001257377.1:p.Gln58Leu