Canonical Allele Identifier: CA397725740

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224689-T-C
• MyVariant Identifiers: chr17:g.7128008T>C (hg19) ; chr17:g.7224689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224689T>C , CM000679.2:g.7224689T>C	GRCh38
NC_000017.10:g.7128008T>C , CM000679.1:g.7128008T>C	GRCh37
NC_000017.9:g.7068732T>C	NCBI36
NG_007975.1:g.9856T>C
NG_008391.2:g.362A>G
NG_033038.1:g.14856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1726T>C MANE Select	ENSP00000349297.5:p.Tyr576His
ENST00000322910.9:c.*1681T>C	ENSP00000325395.5:n.*1681T>C
ENST00000350303.9:c.1660T>C	ENSP00000344152.5:p.Tyr554His
ENST00000356839.9:c.1726T>C	ENSP00000349297.5:p.Tyr576His
ENST00000542255.6:c.537-26T>C
ENST00000543245.6:c.1795T>C	ENSP00000438689.2:p.Tyr599His
ENST00000578033.1:n.57T>C
ENST00000578319.5:n.307T>C
ENST00000578711.1:n.1185T>C
ENST00000578809.5:n.298T>C
ENST00000579425.5:n.842T>C
ENST00000579546.1:c.461T>C
ENST00000583074.5:n.300-26T>C
ENST00000583848.5:c.92T>C	ENSP00000466487.1:p.Leu31Pro
ENST00000583850.5:n.497T>C
ENST00000583858.5:c.657T>C
ENST00000585203.6:n.917T>C
NM_000018.3:c.1726T>C	NP_000009.1:p.Tyr576His
NM_001033859.2:c.1660T>C	NP_001029031.1:p.Tyr554His
NM_001270447.1:c.1795T>C	NP_001257376.1:p.Tyr599His
NM_001270448.1:c.1498T>C	NP_001257377.1:p.Tyr500His
XM_006721516.2:c.1679-26T>C	XP_006721579.2:n.1679-26T>C
XM_011523829.1:c.1577-26T>C	XP_011522131.1:n.1577-26T>C
XM_011523830.1:c.1624T>C	XP_011522132.1:p.Tyr542His
XR_934021.1:n.1829T>C
XR_934022.1:n.1735T>C
XR_934023.1:n.1688-26T>C
XM_006721516.3:c.1679-26T>C	XP_006721579.2:n.1679-26T>C
XM_011523829.2:c.1577-26T>C	XP_011522131.1:n.1577-26T>C
XM_011523830.2:c.1624T>C	XP_011522132.1:p.Tyr542His
XM_024450741.1:c.1714T>C	XP_024306509.1:p.Tyr572His
XR_934021.2:n.1781T>C
XR_934022.2:n.1687T>C
XR_934023.2:n.1640-26T>C
NM_000018.4:c.1726T>C MANE Select	NP_000009.1:p.Tyr576His
NM_001033859.3:c.1660T>C	NP_001029031.1:p.Tyr554His
NM_001270447.2:c.1795T>C	NP_001257376.1:p.Tyr599His
NM_001270448.2:c.1498T>C	NP_001257377.1:p.Tyr500His