Canonical Allele Identifier: CA397722767

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220955T>C , CM000679.2:g.7220955T>C	GRCh38
NC_000017.10:g.7124274T>C , CM000679.1:g.7124274T>C	GRCh37
NC_000017.9:g.7064998T>C	NCBI36
NG_007975.1:g.6122T>C
NG_008391.2:g.4096A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.374T>C MANE Select	NP_000009.1:p.Leu125Pro
ENST00000356839.10:c.374T>C MANE Select	ENSP00000349297.5:p.Leu125Pro
NM_000018.3:c.374T>C	NP_000009.1:p.Leu125Pro
NM_001033859.2:c.308T>C	NP_001029031.1:p.Leu103Pro
NM_001033859.3:c.308T>C	NP_001029031.1:p.Leu103Pro
NM_001270447.1:c.443T>C	NP_001257376.1:p.Leu148Pro
NM_001270447.2:c.443T>C	NP_001257376.1:p.Leu148Pro
NM_001270448.1:c.146T>C	NP_001257377.1:p.Leu49Pro
NM_001270448.2:c.146T>C	NP_001257377.1:p.Leu49Pro
ENST00000322910.9:c.*329T>C	ENSP00000325395.5:n.*329T>C
ENST00000350303.9:c.308T>C	ENSP00000344152.5:p.Leu103Pro
ENST00000356839.9:c.374T>C	ENSP00000349297.5:p.Leu125Pro
ENST00000543245.6:c.443T>C	ENSP00000438689.2:p.Leu148Pro
ENST00000577191.5:n.451T>C
ENST00000577433.5:n.582T>C
ENST00000577857.5:n.293+125T>C
ENST00000579286.5:n.555T>C
ENST00000579886.2:c.212T>C	ENSP00000463246.1:p.Leu71Pro
ENST00000580365.1:n.105T>C
ENST00000581378.5:c.73T>C
ENST00000581562.5:n.421T>C
ENST00000582056.5:n.557T>C
ENST00000582166.1:n.355T>C
ENST00000583312.5:c.374T>C	ENSP00000467920.1:p.Leu125Pro
ENST00000584103.5:c.407T>C	ENSP00000465353.1:p.Leu136Pro
XM_006721516.2:c.374T>C	XP_006721579.2:p.Leu125Pro
XM_006721516.3:c.374T>C	XP_006721579.2:p.Leu125Pro
XM_011523829.1:c.374T>C	XP_011522131.1:p.Leu125Pro
XM_011523829.2:c.374T>C	XP_011522131.1:p.Leu125Pro
XM_011523830.1:c.374T>C	XP_011522132.1:p.Leu125Pro
XM_011523830.2:c.374T>C	XP_011522132.1:p.Leu125Pro
XM_024450741.1:c.374T>C	XP_024306509.1:p.Leu125Pro
XR_934021.1:n.481T>C
XR_934021.2:n.433T>C
XR_934022.1:n.481T>C
XR_934022.2:n.433T>C
XR_934023.1:n.481T>C
XR_934023.2:n.433T>C