Canonical Allele Identifier: CA624860641

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1095328
• ClinVar RCV Id: RCV001416179
• dbSNP Id: rs1226688830
• gnomAD v2: 17-7124159-G-T
• gnomAD v3: 17-7220840-G-T
• gnomAD v4: 17-7220840-G-T
• MyVariant Identifiers: chr17:g.7124159G>T (hg19) ; chr17:g.7220840G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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