Canonical Allele Identifier: CA397726161

Gene: ACADVL

Linked Data

• dbSNP Id: rs1208147546
• gnomAD v2: 17-7128358-T-C
• gnomAD v4: 17-7225039-T-C
• MyVariant Identifiers: chr17:g.7128358T>C (hg19) ; chr17:g.7225039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225039T>C , CM000679.2:g.7225039T>C	GRCh38
NC_000017.10:g.7128358T>C , CM000679.1:g.7128358T>C	GRCh37
NC_000017.9:g.7069082T>C	NCBI36
NG_007975.1:g.10206T>C
NG_008391.2:g.12A>G
NG_033038.1:g.14506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1910T>C MANE Select	ENSP00000349297.5:p.Ile637Thr
ENST00000322910.9:c.*1865T>C	ENSP00000325395.5:n.*1865T>C
ENST00000350303.9:c.1844T>C	ENSP00000344152.5:p.Ile615Thr
ENST00000356839.9:c.1910T>C	ENSP00000349297.5:p.Ile637Thr
ENST00000542255.6:c.789T>C
ENST00000543245.6:c.1979T>C	ENSP00000438689.2:p.Ile660Thr
ENST00000578033.1:n.335T>C
ENST00000578319.5:n.491T>C
ENST00000578711.1:n.1535T>C
ENST00000578809.5:n.482T>C
ENST00000579425.5:n.1026T>C
ENST00000583848.5:c.276T>C	ENSP00000466487.1:n.276T>C
ENST00000583850.5:n.681T>C
ENST00000583858.5:c.841T>C
NM_000018.3:c.1910T>C	NP_000009.1:p.Ile637Thr
NM_001033859.2:c.1844T>C	NP_001029031.1:p.Ile615Thr
NM_001270447.1:c.1979T>C	NP_001257376.1:p.Ile660Thr
NM_001270448.1:c.1682T>C	NP_001257377.1:p.Ile561Thr
XM_006721516.2:c.1931T>C	XP_006721579.2:p.Ile644Thr
XM_011523829.1:c.1829T>C	XP_011522131.1:p.Ile610Thr
XM_011523830.1:c.1808T>C	XP_011522132.1:p.Ile603Thr
XR_934021.1:n.2013T>C
XR_934022.1:n.1919T>C
XR_934023.1:n.1940T>C
XM_006721516.3:c.1931T>C	XP_006721579.2:p.Ile644Thr
XM_011523829.2:c.1829T>C	XP_011522131.1:p.Ile610Thr
XM_011523830.2:c.1808T>C	XP_011522132.1:p.Ile603Thr
XM_024450741.1:c.1898T>C	XP_024306509.1:p.Ile633Thr
XR_934021.2:n.1965T>C
XR_934022.2:n.1871T>C
XR_934023.2:n.1892T>C
NM_000018.4:c.1910T>C MANE Select	NP_000009.1:p.Ile637Thr
NM_001033859.3:c.1844T>C	NP_001029031.1:p.Ile615Thr
NM_001270447.2:c.1979T>C	NP_001257376.1:p.Ile660Thr
NM_001270448.2:c.1682T>C	NP_001257377.1:p.Ile561Thr