Canonical Allele Identifier: CA397725673

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224654-T-C
• MyVariant Identifiers: chr17:g.7127973T>C (hg19) ; chr17:g.7224654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224654T>C , CM000679.2:g.7224654T>C	GRCh38
NC_000017.10:g.7127973T>C , CM000679.1:g.7127973T>C	GRCh37
NC_000017.9:g.7068697T>C	NCBI36
NG_007975.1:g.9821T>C
NG_008391.2:g.397A>G
NG_033038.1:g.14891A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1691T>C MANE Select	ENSP00000349297.5:p.Leu564Pro
ENST00000322910.9:c.*1646T>C	ENSP00000325395.5:n.*1646T>C
ENST00000350303.9:c.1625T>C	ENSP00000344152.5:p.Leu542Pro
ENST00000356839.9:c.1691T>C	ENSP00000349297.5:p.Leu564Pro
ENST00000542255.6:c.537-61T>C
ENST00000543245.6:c.1760T>C	ENSP00000438689.2:p.Leu587Pro
ENST00000578033.1:n.22T>C
ENST00000578319.5:n.272T>C
ENST00000578711.1:n.1150T>C
ENST00000578809.5:n.263T>C
ENST00000579425.5:n.807T>C
ENST00000579546.1:c.426T>C
ENST00000582450.1:n.288T>C
ENST00000583074.5:n.300-61T>C
ENST00000583848.5:c.65-8T>C	ENSP00000466487.1:n.65-8T>C
ENST00000583850.5:n.462T>C
ENST00000583858.5:c.622T>C
ENST00000585203.6:n.882T>C
NM_000018.3:c.1691T>C	NP_000009.1:p.Leu564Pro
NM_001033859.2:c.1625T>C	NP_001029031.1:p.Leu542Pro
NM_001270447.1:c.1760T>C	NP_001257376.1:p.Leu587Pro
NM_001270448.1:c.1463T>C	NP_001257377.1:p.Leu488Pro
XM_006721516.2:c.1679-61T>C	XP_006721579.2:n.1679-61T>C
XM_011523829.1:c.1577-61T>C	XP_011522131.1:n.1577-61T>C
XM_011523830.1:c.1589T>C	XP_011522132.1:p.Leu530Pro
XR_934021.1:n.1794T>C
XR_934022.1:n.1700T>C
XR_934023.1:n.1688-61T>C
XM_006721516.3:c.1679-61T>C	XP_006721579.2:n.1679-61T>C
XM_011523829.2:c.1577-61T>C	XP_011522131.1:n.1577-61T>C
XM_011523830.2:c.1589T>C	XP_011522132.1:p.Leu530Pro
XM_024450741.1:c.1679T>C	XP_024306509.1:p.Leu560Pro
XR_934021.2:n.1746T>C
XR_934022.2:n.1652T>C
XR_934023.2:n.1640-61T>C
NM_000018.4:c.1691T>C MANE Select	NP_000009.1:p.Leu564Pro
NM_001033859.3:c.1625T>C	NP_001029031.1:p.Leu542Pro
NM_001270447.2:c.1760T>C	NP_001257376.1:p.Leu587Pro
NM_001270448.2:c.1463T>C	NP_001257377.1:p.Leu488Pro