Canonical Allele Identifier: CA2732947523

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2811187
• ClinVar RCV Id: RCV003601534
• dbSNP Id: rs1226688830

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220840G>A , CM000679.2:g.7220840G>A	GRCh38
NC_000017.10:g.7124159G>A , CM000679.1:g.7124159G>A	GRCh37
NC_000017.9:g.7064883G>A	NCBI36
NG_007975.1:g.6007G>A
NG_008391.2:g.4211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.342+10G>A MANE Select	ENSP00000349297.5:n.342+10G>A
ENST00000322910.9:c.*297+10G>A	ENSP00000325395.5:n.*297+10G>A
ENST00000350303.9:c.276+10G>A	ENSP00000344152.5:n.276+10G>A
ENST00000356839.9:c.342+10G>A	ENSP00000349297.5:n.342+10G>A
ENST00000543245.6:c.411+10G>A	ENSP00000438689.2:n.411+10G>A
ENST00000577191.5:n.419+10G>A
ENST00000577433.5:n.550+10G>A
ENST00000577857.5:n.293+10G>A
ENST00000579286.5:n.523+10G>A
ENST00000579886.2:c.202-105G>A	ENSP00000463246.1:n.202-105G>A
ENST00000580365.1:n.73+10G>A
ENST00000581378.5:c.41+10G>A
ENST00000581562.5:n.389+10G>A
ENST00000582056.5:n.442G>A
ENST00000582166.1:n.240G>A
ENST00000582356.5:n.551G>A
ENST00000583312.5:c.342+10G>A	ENSP00000467920.1:n.342+10G>A
ENST00000584103.5:c.342+10G>A	ENSP00000465353.1:n.342+10G>A
NM_000018.3:c.342+10G>A	NP_000009.1:n.342+10G>A
NM_001033859.2:c.276+10G>A	NP_001029031.1:n.276+10G>A
NM_001270447.1:c.411+10G>A	NP_001257376.1:n.411+10G>A
NM_001270448.1:c.114+10G>A	NP_001257377.1:n.114+10G>A
XM_006721516.2:c.342+10G>A	XP_006721579.2:n.342+10G>A
XM_011523829.1:c.342+10G>A	XP_011522131.1:n.342+10G>A
XM_011523830.1:c.342+10G>A	XP_011522132.1:n.342+10G>A
XR_934021.1:n.449+10G>A
XR_934022.1:n.449+10G>A
XR_934023.1:n.449+10G>A
XM_006721516.3:c.342+10G>A	XP_006721579.2:n.342+10G>A
XM_011523829.2:c.342+10G>A	XP_011522131.1:n.342+10G>A
XM_011523830.2:c.342+10G>A	XP_011522132.1:n.342+10G>A
XM_024450741.1:c.342+10G>A	XP_024306509.1:n.342+10G>A
XR_934021.2:n.401+10G>A
XR_934022.2:n.401+10G>A
XR_934023.2:n.401+10G>A
NM_000018.4:c.342+10G>A MANE Select	NP_000009.1:n.342+10G>A
NM_001033859.3:c.276+10G>A	NP_001029031.1:n.276+10G>A
NM_001270447.2:c.411+10G>A	NP_001257376.1:n.411+10G>A
NM_001270448.2:c.114+10G>A	NP_001257377.1:n.114+10G>A