Canonical Allele Identifier: CA8337648

Gene: ACADVL

Linked Data

• dbSNP Id: rs754620326
• ExAC: 17:7124122 G / A
• gnomAD v2: 17-7124122-G-A
• gnomAD v4: 17-7220803-G-A
• MyVariant Identifiers: chr17:g.7124122G>A (hg19) ; chr17:g.7220803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220803G>A , CM000679.2:g.7220803G>A	GRCh38
NC_000017.10:g.7124122G>A , CM000679.1:g.7124122G>A	GRCh37
NC_000017.9:g.7064846G>A	NCBI36
NG_007975.1:g.5970G>A
NG_008391.2:g.4248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.315G>A MANE Select	ENSP00000349297.5:p.Leu105=
ENST00000322910.9:c.*270G>A	ENSP00000325395.5:n.*270G>A
ENST00000350303.9:c.249G>A	ENSP00000344152.5:p.Leu83=
ENST00000356839.9:c.315G>A	ENSP00000349297.5:p.Leu105=
ENST00000543245.6:c.384G>A	ENSP00000438689.2:p.Leu128=
ENST00000577191.5:n.392G>A
ENST00000577433.5:n.523G>A
ENST00000577857.5:n.266G>A
ENST00000579286.5:n.496G>A
ENST00000579886.2:c.202-142G>A	ENSP00000463246.1:n.202-142G>A
ENST00000580365.1:n.46G>A
ENST00000581378.5:c.14G>A
ENST00000581562.5:n.362G>A
ENST00000582056.5:n.405G>A
ENST00000582166.1:n.203G>A
ENST00000582356.5:n.514G>A
ENST00000583312.5:c.315G>A	ENSP00000467920.1:p.Leu105=
ENST00000584103.5:c.315G>A	ENSP00000465353.1:p.Leu105=
NM_000018.3:c.315G>A	NP_000009.1:p.Leu105=
NM_001033859.2:c.249G>A	NP_001029031.1:p.Leu83=
NM_001270447.1:c.384G>A	NP_001257376.1:p.Leu128=
NM_001270448.1:c.87G>A	NP_001257377.1:p.Leu29=
XM_006721516.2:c.315G>A	XP_006721579.2:p.Leu105=
XM_011523829.1:c.315G>A	XP_011522131.1:p.Leu105=
XM_011523830.1:c.315G>A	XP_011522132.1:p.Leu105=
XR_934021.1:n.422G>A
XR_934022.1:n.422G>A
XR_934023.1:n.422G>A
XM_006721516.3:c.315G>A	XP_006721579.2:p.Leu105=
XM_011523829.2:c.315G>A	XP_011522131.1:p.Leu105=
XM_011523830.2:c.315G>A	XP_011522132.1:p.Leu105=
XM_024450741.1:c.315G>A	XP_024306509.1:p.Leu105=
XR_934021.2:n.374G>A
XR_934022.2:n.374G>A
XR_934023.2:n.374G>A
NM_000018.4:c.315G>A MANE Select	NP_000009.1:p.Leu105=
NM_001033859.3:c.249G>A	NP_001029031.1:p.Leu83=
NM_001270447.2:c.384G>A	NP_001257376.1:p.Leu128=
NM_001270448.2:c.87G>A	NP_001257377.1:p.Leu29=