Canonical Allele Identifier: CA397722765

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124273C>A (hg19) ; chr17:g.7220954C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220954C>A , CM000679.2:g.7220954C>A	GRCh38
NC_000017.10:g.7124273C>A , CM000679.1:g.7124273C>A	GRCh37
NC_000017.9:g.7064997C>A	NCBI36
NG_007975.1:g.6121C>A
NG_008391.2:g.4097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.373C>A MANE Select	ENSP00000349297.5:p.Leu125Met
ENST00000322910.9:c.*328C>A	ENSP00000325395.5:n.*328C>A
ENST00000350303.9:c.307C>A	ENSP00000344152.5:p.Leu103Met
ENST00000356839.9:c.373C>A	ENSP00000349297.5:p.Leu125Met
ENST00000543245.6:c.442C>A	ENSP00000438689.2:p.Leu148Met
ENST00000577191.5:n.450C>A
ENST00000577433.5:n.581C>A
ENST00000577857.5:n.293+124C>A
ENST00000579286.5:n.554C>A
ENST00000579886.2:c.211C>A	ENSP00000463246.1:p.Leu71Met
ENST00000580365.1:n.104C>A
ENST00000581378.5:c.72C>A
ENST00000581562.5:n.420C>A
ENST00000582056.5:n.556C>A
ENST00000582166.1:n.354C>A
ENST00000583312.5:c.373C>A	ENSP00000467920.1:p.Leu125Met
ENST00000584103.5:c.406C>A	ENSP00000465353.1:p.Leu136Met
NM_000018.3:c.373C>A	NP_000009.1:p.Leu125Met
NM_001033859.2:c.307C>A	NP_001029031.1:p.Leu103Met
NM_001270447.1:c.442C>A	NP_001257376.1:p.Leu148Met
NM_001270448.1:c.145C>A	NP_001257377.1:p.Leu49Met
XM_006721516.2:c.373C>A	XP_006721579.2:p.Leu125Met
XM_011523829.1:c.373C>A	XP_011522131.1:p.Leu125Met
XM_011523830.1:c.373C>A	XP_011522132.1:p.Leu125Met
XR_934021.1:n.480C>A
XR_934022.1:n.480C>A
XR_934023.1:n.480C>A
XM_006721516.3:c.373C>A	XP_006721579.2:p.Leu125Met
XM_011523829.2:c.373C>A	XP_011522131.1:p.Leu125Met
XM_011523830.2:c.373C>A	XP_011522132.1:p.Leu125Met
XM_024450741.1:c.373C>A	XP_024306509.1:p.Leu125Met
XR_934021.2:n.432C>A
XR_934022.2:n.432C>A
XR_934023.2:n.432C>A
NM_000018.4:c.373C>A MANE Select	NP_000009.1:p.Leu125Met
NM_001033859.3:c.307C>A	NP_001029031.1:p.Leu103Met
NM_001270447.2:c.442C>A	NP_001257376.1:p.Leu148Met
NM_001270448.2:c.145C>A	NP_001257377.1:p.Leu49Met