Canonical Allele Identifier: CA497693913

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123967C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220648C>G , CM000679.2:g.7220648C>G	GRCh38
NC_000017.10:g.7123967C>G , CM000679.1:g.7123967C>G	GRCh37
NC_000017.9:g.7064691C>G	NCBI36
NG_007975.1:g.5815C>G
NG_008391.2:g.4403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.249C>G MANE Select	ENSP00000349297.5:p.Thr83=
ENST00000322910.9:c.*204C>G	ENSP00000325395.5:n.*204C>G
ENST00000350303.9:c.183C>G	ENSP00000344152.5:p.Thr61=
ENST00000356839.9:c.249C>G	ENSP00000349297.5:p.Thr83=
ENST00000543245.6:c.318C>G	ENSP00000438689.2:p.Thr106=
ENST00000577191.5:n.326C>G
ENST00000577433.5:n.457C>G
ENST00000577857.5:n.229-118C>G
ENST00000578269.5:n.696C>G
ENST00000578421.1:n.457C>G
ENST00000579286.5:n.430C>G
ENST00000579886.2:c.201+122C>G	ENSP00000463246.1:n.201+122C>G
ENST00000580263.5:n.413C>G
ENST00000581562.5:n.296C>G
ENST00000582056.5:n.339C>G
ENST00000582166.1:n.137C>G
ENST00000582356.5:n.448C>G
ENST00000583312.5:c.249C>G	ENSP00000467920.1:p.Thr83=
ENST00000584103.5:c.249C>G	ENSP00000465353.1:p.Thr83=
NM_000018.3:c.249C>G	NP_000009.1:p.Thr83=
NM_001033859.2:c.183C>G	NP_001029031.1:p.Thr61=
NM_001270447.1:c.318C>G	NP_001257376.1:p.Thr106=
NM_001270448.1:c.21C>G	NP_001257377.1:p.Thr7=
XM_006721516.2:c.249C>G	XP_006721579.2:p.Thr83=
XM_011523829.1:c.249C>G	XP_011522131.1:p.Thr83=
XM_011523830.1:c.249C>G	XP_011522132.1:p.Thr83=
XR_934021.1:n.356C>G
XR_934022.1:n.356C>G
XR_934023.1:n.356C>G
XM_006721516.3:c.249C>G	XP_006721579.2:p.Thr83=
XM_011523829.2:c.249C>G	XP_011522131.1:p.Thr83=
XM_011523830.2:c.249C>G	XP_011522132.1:p.Thr83=
XM_024450741.1:c.249C>G	XP_024306509.1:p.Thr83=
XR_934021.2:n.308C>G
XR_934022.2:n.308C>G
XR_934023.2:n.308C>G
NM_000018.4:c.249C>G MANE Select	NP_000009.1:p.Thr83=
NM_001033859.3:c.183C>G	NP_001029031.1:p.Thr61=
NM_001270447.2:c.318C>G	NP_001257376.1:p.Thr106=
NM_001270448.2:c.21C>G	NP_001257377.1:p.Thr7=