Canonical Allele Identifier: CA8337550

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 569736
• ClinVar RCV Id: RCV000690439
• dbSNP Id: rs367705640
• ExAC: 17:7123499 G / A
• gnomAD v2: 17-7123499-G-A
• gnomAD v3: 17-7220180-G-A
• gnomAD v4: 17-7220180-G-A
• MyVariant Identifiers: chr17:g.7123499G>A (hg19) ; chr17:g.7220180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220180G>A , CM000679.2:g.7220180G>A	GRCh38
NC_000017.10:g.7123499G>A , CM000679.1:g.7123499G>A	GRCh37
NC_000017.9:g.7064223G>A	NCBI36
NG_007975.1:g.5347G>A
NG_008391.2:g.4871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.121G>A MANE Select	ENSP00000349297.5:p.Ala41Thr
ENST00000322910.9:c.*76G>A	ENSP00000325395.5:n.*76G>A
ENST00000350303.9:c.121G>A	ENSP00000344152.5:p.Ala41Thr
ENST00000356839.9:c.121G>A	ENSP00000349297.5:p.Ala41Thr
ENST00000543245.6:c.190G>A	ENSP00000438689.2:p.Ala64Thr
ENST00000577191.5:n.198G>A
ENST00000577857.5:n.211G>A
ENST00000578269.5:n.228G>A
ENST00000578421.1:n.255G>A
ENST00000579286.5:n.228G>A
ENST00000579886.2:c.121G>A	ENSP00000463246.1:p.Ala41Thr
ENST00000580263.5:n.211G>A
ENST00000581562.5:n.168G>A
ENST00000582056.5:n.211G>A
ENST00000582356.5:n.246G>A
ENST00000583312.5:c.121G>A	ENSP00000467920.1:p.Ala41Thr
ENST00000584103.5:c.121G>A	ENSP00000465353.1:p.Ala41Thr
NM_000018.3:c.121G>A	NP_000009.1:p.Ala41Thr
NM_001033859.2:c.121G>A	NP_001029031.1:p.Ala41Thr
NM_001270447.1:c.190G>A	NP_001257376.1:p.Ala64Thr
NM_001270448.1:c.-108G>A	NP_001257377.1:n.-108G>A
XM_006721516.2:c.121G>A	XP_006721579.2:p.Ala41Thr
XM_011523829.1:c.121G>A	XP_011522131.1:p.Ala41Thr
XM_011523830.1:c.121G>A	XP_011522132.1:p.Ala41Thr
XR_934021.1:n.228G>A
XR_934022.1:n.228G>A
XR_934023.1:n.228G>A
XM_006721516.3:c.121G>A	XP_006721579.2:p.Ala41Thr
XM_011523829.2:c.121G>A	XP_011522131.1:p.Ala41Thr
XM_011523830.2:c.121G>A	XP_011522132.1:p.Ala41Thr
XM_024450741.1:c.121G>A	XP_024306509.1:p.Ala41Thr
XR_934021.2:n.180G>A
XR_934022.2:n.180G>A
XR_934023.2:n.180G>A
NM_000018.4:c.121G>A MANE Select	NP_000009.1:p.Ala41Thr
NM_001033859.3:c.121G>A	NP_001029031.1:p.Ala41Thr
NM_001270447.2:c.190G>A	NP_001257376.1:p.Ala64Thr
NM_001270448.2:c.-108G>A	NP_001257377.1:n.-108G>A