Canonical Allele Identifier: CA397722754

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932750
• ClinVar RCV Id: RCV001200689
• dbSNP Id: rs1347143307
• MyVariant Identifiers: chr17:g.7124267G>T (hg19) ; chr17:g.7220948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220948G>T , CM000679.2:g.7220948G>T	GRCh38
NC_000017.10:g.7124267G>T , CM000679.1:g.7124267G>T	GRCh37
NC_000017.9:g.7064991G>T	NCBI36
NG_007975.1:g.6115G>T
NG_008391.2:g.4103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.367G>T MANE Select	ENSP00000349297.5:p.Asp123Tyr
ENST00000322910.9:c.*322G>T	ENSP00000325395.5:n.*322G>T
ENST00000350303.9:c.301G>T	ENSP00000344152.5:p.Asp101Tyr
ENST00000356839.9:c.367G>T	ENSP00000349297.5:p.Asp123Tyr
ENST00000543245.6:c.436G>T	ENSP00000438689.2:p.Asp146Tyr
ENST00000577191.5:n.444G>T
ENST00000577433.5:n.575G>T
ENST00000577857.5:n.293+118G>T
ENST00000579286.5:n.548G>T
ENST00000579886.2:c.205G>T	ENSP00000463246.1:p.Asp69Tyr
ENST00000580365.1:n.98G>T
ENST00000581378.5:c.66G>T
ENST00000581562.5:n.414G>T
ENST00000582056.5:n.550G>T
ENST00000582166.1:n.348G>T
ENST00000583312.5:c.367G>T	ENSP00000467920.1:p.Asp123Tyr
ENST00000584103.5:c.400G>T	ENSP00000465353.1:p.Asp134Tyr
NM_000018.3:c.367G>T	NP_000009.1:p.Asp123Tyr
NM_001033859.2:c.301G>T	NP_001029031.1:p.Asp101Tyr
NM_001270447.1:c.436G>T	NP_001257376.1:p.Asp146Tyr
NM_001270448.1:c.139G>T	NP_001257377.1:p.Asp47Tyr
XM_006721516.2:c.367G>T	XP_006721579.2:p.Asp123Tyr
XM_011523829.1:c.367G>T	XP_011522131.1:p.Asp123Tyr
XM_011523830.1:c.367G>T	XP_011522132.1:p.Asp123Tyr
XR_934021.1:n.474G>T
XR_934022.1:n.474G>T
XR_934023.1:n.474G>T
XM_006721516.3:c.367G>T	XP_006721579.2:p.Asp123Tyr
XM_011523829.2:c.367G>T	XP_011522131.1:p.Asp123Tyr
XM_011523830.2:c.367G>T	XP_011522132.1:p.Asp123Tyr
XM_024450741.1:c.367G>T	XP_024306509.1:p.Asp123Tyr
XR_934021.2:n.426G>T
XR_934022.2:n.426G>T
XR_934023.2:n.426G>T
NM_000018.4:c.367G>T MANE Select	NP_000009.1:p.Asp123Tyr
NM_001033859.3:c.301G>T	NP_001029031.1:p.Asp101Tyr
NM_001270447.2:c.436G>T	NP_001257376.1:p.Asp146Tyr
NM_001270448.2:c.139G>T	NP_001257377.1:p.Asp47Tyr