Canonical Allele Identifier: CA624860688

Gene: ACADVL

Linked Data

• dbSNP Id: rs1323034557
• gnomAD v2: 17-7124048-A-G
• gnomAD v3: 17-7220729-A-G
• gnomAD v4: 17-7220729-A-G
• MyVariant Identifiers: chr17:g.7124048A>G (hg19) ; chr17:g.7220729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220729A>G , CM000679.2:g.7220729A>G	GRCh38
NC_000017.10:g.7124048A>G , CM000679.1:g.7124048A>G	GRCh37
NC_000017.9:g.7064772A>G	NCBI36
NG_007975.1:g.5896A>G
NG_008391.2:g.4322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.278-37A>G MANE Select	ENSP00000349297.5:n.278-37A>G
ENST00000322910.9:c.*233-37A>G	ENSP00000325395.5:n.*233-37A>G
ENST00000350303.9:c.212-37A>G	ENSP00000344152.5:n.212-37A>G
ENST00000356839.9:c.278-37A>G	ENSP00000349297.5:n.278-37A>G
ENST00000543245.6:c.347-37A>G	ENSP00000438689.2:n.347-37A>G
ENST00000577191.5:n.355-37A>G
ENST00000577433.5:n.486-37A>G
ENST00000577857.5:n.229-37A>G
ENST00000578421.1:n.538A>G
ENST00000579286.5:n.459-37A>G
ENST00000579886.2:c.201+203A>G	ENSP00000463246.1:n.201+203A>G
ENST00000580263.5:n.494A>G
ENST00000581562.5:n.325-37A>G
ENST00000582056.5:n.368-37A>G
ENST00000582166.1:n.166-37A>G
ENST00000582356.5:n.477-37A>G
ENST00000583312.5:c.278-37A>G	ENSP00000467920.1:n.278-37A>G
ENST00000584103.5:c.278-37A>G	ENSP00000465353.1:n.278-37A>G
NM_000018.3:c.278-37A>G	NP_000009.1:n.278-37A>G
NM_001033859.2:c.212-37A>G	NP_001029031.1:n.212-37A>G
NM_001270447.1:c.347-37A>G	NP_001257376.1:n.347-37A>G
NM_001270448.1:c.50-37A>G	NP_001257377.1:n.50-37A>G
XM_006721516.2:c.278-37A>G	XP_006721579.2:n.278-37A>G
XM_011523829.1:c.278-37A>G	XP_011522131.1:n.278-37A>G
XM_011523830.1:c.278-37A>G	XP_011522132.1:n.278-37A>G
XR_934021.1:n.385-37A>G
XR_934022.1:n.385-37A>G
XR_934023.1:n.385-37A>G
XM_006721516.3:c.278-37A>G	XP_006721579.2:n.278-37A>G
XM_011523829.2:c.278-37A>G	XP_011522131.1:n.278-37A>G
XM_011523830.2:c.278-37A>G	XP_011522132.1:n.278-37A>G
XM_024450741.1:c.278-37A>G	XP_024306509.1:n.278-37A>G
XR_934021.2:n.337-37A>G
XR_934022.2:n.337-37A>G
XR_934023.2:n.337-37A>G
NM_000018.4:c.278-37A>G MANE Select	NP_000009.1:n.278-37A>G
NM_001033859.3:c.212-37A>G	NP_001029031.1:n.212-37A>G
NM_001270447.2:c.347-37A>G	NP_001257376.1:n.347-37A>G
NM_001270448.2:c.50-37A>G	NP_001257377.1:n.50-37A>G