Canonical Allele Identifier: CA624860685

Gene: ACADVL

Linked Data

• dbSNP Id: rs1467929650
• gnomAD v2: 17-7124010-A-G
• gnomAD v4: 17-7220691-A-G
• MyVariant Identifiers: chr17:g.7124010A>G (hg19) ; chr17:g.7220691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220691A>G , CM000679.2:g.7220691A>G	GRCh38
NC_000017.10:g.7124010A>G , CM000679.1:g.7124010A>G	GRCh37
NC_000017.9:g.7064734A>G	NCBI36
NG_007975.1:g.5858A>G
NG_008391.2:g.4360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.277+15A>G MANE Select	ENSP00000349297.5:n.277+15A>G
ENST00000322910.9:c.*232+15A>G	ENSP00000325395.5:n.*232+15A>G
ENST00000350303.9:c.211+15A>G	ENSP00000344152.5:n.211+15A>G
ENST00000356839.9:c.277+15A>G	ENSP00000349297.5:n.277+15A>G
ENST00000543245.6:c.346+15A>G	ENSP00000438689.2:n.346+15A>G
ENST00000577191.5:n.354+15A>G
ENST00000577433.5:n.485+15A>G
ENST00000577857.5:n.229-75A>G
ENST00000578421.1:n.500A>G
ENST00000579286.5:n.458+15A>G
ENST00000579886.2:c.201+165A>G	ENSP00000463246.1:n.201+165A>G
ENST00000580263.5:n.456A>G
ENST00000581562.5:n.324+15A>G
ENST00000582056.5:n.367+15A>G
ENST00000582166.1:n.165+15A>G
ENST00000582356.5:n.476+15A>G
ENST00000583312.5:c.277+15A>G	ENSP00000467920.1:n.277+15A>G
ENST00000584103.5:c.277+15A>G	ENSP00000465353.1:n.277+15A>G
NM_000018.3:c.277+15A>G	NP_000009.1:n.277+15A>G
NM_001033859.2:c.211+15A>G	NP_001029031.1:n.211+15A>G
NM_001270447.1:c.346+15A>G	NP_001257376.1:n.346+15A>G
NM_001270448.1:c.49+15A>G	NP_001257377.1:n.49+15A>G
XM_006721516.2:c.277+15A>G	XP_006721579.2:n.277+15A>G
XM_011523829.1:c.277+15A>G	XP_011522131.1:n.277+15A>G
XM_011523830.1:c.277+15A>G	XP_011522132.1:n.277+15A>G
XR_934021.1:n.384+15A>G
XR_934022.1:n.384+15A>G
XR_934023.1:n.384+15A>G
XM_006721516.3:c.277+15A>G	XP_006721579.2:n.277+15A>G
XM_011523829.2:c.277+15A>G	XP_011522131.1:n.277+15A>G
XM_011523830.2:c.277+15A>G	XP_011522132.1:n.277+15A>G
XM_024450741.1:c.277+15A>G	XP_024306509.1:n.277+15A>G
XR_934021.2:n.336+15A>G
XR_934022.2:n.336+15A>G
XR_934023.2:n.336+15A>G
NM_000018.4:c.277+15A>G MANE Select	NP_000009.1:n.277+15A>G
NM_001033859.3:c.211+15A>G	NP_001029031.1:n.211+15A>G
NM_001270447.2:c.346+15A>G	NP_001257376.1:n.346+15A>G
NM_001270448.2:c.49+15A>G	NP_001257377.1:n.49+15A>G