Canonical Allele Identifier: CA397722340

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123930A>T (hg19) ; chr17:g.7220611A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220611A>T , CM000679.2:g.7220611A>T	GRCh38
NC_000017.10:g.7123930A>T , CM000679.1:g.7123930A>T	GRCh37
NC_000017.9:g.7064654A>T	NCBI36
NG_007975.1:g.5778A>T
NG_008391.2:g.4440T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.212A>T MANE Select	ENSP00000349297.5:p.Lys71Met
ENST00000322910.9:c.*167A>T	ENSP00000325395.5:n.*167A>T
ENST00000350303.9:c.146A>T	ENSP00000344152.5:p.Lys49Met
ENST00000356839.9:c.212A>T	ENSP00000349297.5:p.Lys71Met
ENST00000543245.6:c.281A>T	ENSP00000438689.2:p.Lys94Met
ENST00000577191.5:n.289A>T
ENST00000577433.5:n.420A>T
ENST00000577857.5:n.229-155A>T
ENST00000578269.5:n.659A>T
ENST00000578421.1:n.420A>T
ENST00000579286.5:n.393A>T
ENST00000579886.2:c.201+85A>T	ENSP00000463246.1:n.201+85A>T
ENST00000580263.5:n.376A>T
ENST00000581562.5:n.259A>T
ENST00000582056.5:n.302A>T
ENST00000582166.1:n.100A>T
ENST00000582356.5:n.411A>T
ENST00000583312.5:c.212A>T	ENSP00000467920.1:p.Lys71Met
ENST00000584103.5:c.212A>T	ENSP00000465353.1:p.Lys71Met
NM_000018.3:c.212A>T	NP_000009.1:p.Lys71Met
NM_001033859.2:c.146A>T	NP_001029031.1:p.Lys49Met
NM_001270447.1:c.281A>T	NP_001257376.1:p.Lys94Met
NM_001270448.1:c.-17A>T	NP_001257377.1:n.-17A>T
XM_006721516.2:c.212A>T	XP_006721579.2:p.Lys71Met
XM_011523829.1:c.212A>T	XP_011522131.1:p.Lys71Met
XM_011523830.1:c.212A>T	XP_011522132.1:p.Lys71Met
XR_934021.1:n.319A>T
XR_934022.1:n.319A>T
XR_934023.1:n.319A>T
XM_006721516.3:c.212A>T	XP_006721579.2:p.Lys71Met
XM_011523829.2:c.212A>T	XP_011522131.1:p.Lys71Met
XM_011523830.2:c.212A>T	XP_011522132.1:p.Lys71Met
XM_024450741.1:c.212A>T	XP_024306509.1:p.Lys71Met
XR_934021.2:n.271A>T
XR_934022.2:n.271A>T
XR_934023.2:n.271A>T
NM_000018.4:c.212A>T MANE Select	NP_000009.1:p.Lys71Met
NM_001033859.3:c.146A>T	NP_001029031.1:p.Lys49Met
NM_001270447.2:c.281A>T	NP_001257376.1:p.Lys94Met
NM_001270448.2:c.-17A>T	NP_001257377.1:n.-17A>T