Canonical Allele Identifier: CA397722426

Gene: ACADVL

Linked Data

• dbSNP Id: rs781758731
• gnomAD v2: 17-7123971-G-A
• gnomAD v4: 17-7220652-G-A
• MyVariant Identifiers: chr17:g.7123971G>A (hg19) ; chr17:g.7220652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220652G>A , CM000679.2:g.7220652G>A	GRCh38
NC_000017.10:g.7123971G>A , CM000679.1:g.7123971G>A	GRCh37
NC_000017.9:g.7064695G>A	NCBI36
NG_007975.1:g.5819G>A
NG_008391.2:g.4399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.253G>A MANE Select	ENSP00000349297.5:p.Asp85Asn
ENST00000322910.9:c.*208G>A	ENSP00000325395.5:n.*208G>A
ENST00000350303.9:c.187G>A	ENSP00000344152.5:p.Asp63Asn
ENST00000356839.9:c.253G>A	ENSP00000349297.5:p.Asp85Asn
ENST00000543245.6:c.322G>A	ENSP00000438689.2:p.Asp108Asn
ENST00000577191.5:n.330G>A
ENST00000577433.5:n.461G>A
ENST00000577857.5:n.229-114G>A
ENST00000578269.5:n.700G>A
ENST00000578421.1:n.461G>A
ENST00000579286.5:n.434G>A
ENST00000579886.2:c.201+126G>A	ENSP00000463246.1:n.201+126G>A
ENST00000580263.5:n.417G>A
ENST00000581562.5:n.300G>A
ENST00000582056.5:n.343G>A
ENST00000582166.1:n.141G>A
ENST00000582356.5:n.452G>A
ENST00000583312.5:c.253G>A	ENSP00000467920.1:p.Asp85Asn
ENST00000584103.5:c.253G>A	ENSP00000465353.1:p.Asp85Asn
NM_000018.3:c.253G>A	NP_000009.1:p.Asp85Asn
NM_001033859.2:c.187G>A	NP_001029031.1:p.Asp63Asn
NM_001270447.1:c.322G>A	NP_001257376.1:p.Asp108Asn
NM_001270448.1:c.25G>A	NP_001257377.1:p.Asp9Asn
XM_006721516.2:c.253G>A	XP_006721579.2:p.Asp85Asn
XM_011523829.1:c.253G>A	XP_011522131.1:p.Asp85Asn
XM_011523830.1:c.253G>A	XP_011522132.1:p.Asp85Asn
XR_934021.1:n.360G>A
XR_934022.1:n.360G>A
XR_934023.1:n.360G>A
XM_006721516.3:c.253G>A	XP_006721579.2:p.Asp85Asn
XM_011523829.2:c.253G>A	XP_011522131.1:p.Asp85Asn
XM_011523830.2:c.253G>A	XP_011522132.1:p.Asp85Asn
XM_024450741.1:c.253G>A	XP_024306509.1:p.Asp85Asn
XR_934021.2:n.312G>A
XR_934022.2:n.312G>A
XR_934023.2:n.312G>A
NM_000018.4:c.253G>A MANE Select	NP_000009.1:p.Asp85Asn
NM_001033859.3:c.187G>A	NP_001029031.1:p.Asp63Asn
NM_001270447.2:c.322G>A	NP_001257376.1:p.Asp108Asn
NM_001270448.2:c.25G>A	NP_001257377.1:p.Asp9Asn