Canonical Allele Identifier: CA397726157

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128357A>C (hg19) ; chr17:g.7225038A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225038A>C , CM000679.2:g.7225038A>C	GRCh38
NC_000017.10:g.7128357A>C , CM000679.1:g.7128357A>C	GRCh37
NC_000017.9:g.7069081A>C	NCBI36
NG_007975.1:g.10205A>C
NG_008391.2:g.13T>G
NG_033038.1:g.14507T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1909A>C MANE Select	ENSP00000349297.5:p.Ile637Leu
ENST00000322910.9:c.*1864A>C	ENSP00000325395.5:n.*1864A>C
ENST00000350303.9:c.1843A>C	ENSP00000344152.5:p.Ile615Leu
ENST00000356839.9:c.1909A>C	ENSP00000349297.5:p.Ile637Leu
ENST00000542255.6:c.788A>C
ENST00000543245.6:c.1978A>C	ENSP00000438689.2:p.Ile660Leu
ENST00000578033.1:n.334A>C
ENST00000578319.5:n.490A>C
ENST00000578711.1:n.1534A>C
ENST00000578809.5:n.481A>C
ENST00000579425.5:n.1025A>C
ENST00000583848.5:c.275A>C	ENSP00000466487.1:n.275A>C
ENST00000583850.5:n.680A>C
ENST00000583858.5:c.840A>C
NM_000018.3:c.1909A>C	NP_000009.1:p.Ile637Leu
NM_001033859.2:c.1843A>C	NP_001029031.1:p.Ile615Leu
NM_001270447.1:c.1978A>C	NP_001257376.1:p.Ile660Leu
NM_001270448.1:c.1681A>C	NP_001257377.1:p.Ile561Leu
XM_006721516.2:c.1930A>C	XP_006721579.2:p.Ile644Leu
XM_011523829.1:c.1828A>C	XP_011522131.1:p.Ile610Leu
XM_011523830.1:c.1807A>C	XP_011522132.1:p.Ile603Leu
XR_934021.1:n.2012A>C
XR_934022.1:n.1918A>C
XR_934023.1:n.1939A>C
XM_006721516.3:c.1930A>C	XP_006721579.2:p.Ile644Leu
XM_011523829.2:c.1828A>C	XP_011522131.1:p.Ile610Leu
XM_011523830.2:c.1807A>C	XP_011522132.1:p.Ile603Leu
XM_024450741.1:c.1897A>C	XP_024306509.1:p.Ile633Leu
XR_934021.2:n.1964A>C
XR_934022.2:n.1870A>C
XR_934023.2:n.1891A>C
NM_000018.4:c.1909A>C MANE Select	NP_000009.1:p.Ile637Leu
NM_001033859.3:c.1843A>C	NP_001029031.1:p.Ile615Leu
NM_001270447.2:c.1978A>C	NP_001257376.1:p.Ile660Leu
NM_001270448.2:c.1681A>C	NP_001257377.1:p.Ile561Leu