Canonical Allele Identifier: CA397726144

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128352A>C (hg19) ; chr17:g.7225033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225033A>C , CM000679.2:g.7225033A>C	GRCh38
NC_000017.10:g.7128352A>C , CM000679.1:g.7128352A>C	GRCh37
NC_000017.9:g.7069076A>C	NCBI36
NG_007975.1:g.10200A>C
NG_008391.2:g.18T>G
NG_033038.1:g.14512T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1904A>C MANE Select	ENSP00000349297.5:p.Lys635Thr
ENST00000322910.9:c.*1859A>C	ENSP00000325395.5:n.*1859A>C
ENST00000350303.9:c.1838A>C	ENSP00000344152.5:p.Lys613Thr
ENST00000356839.9:c.1904A>C	ENSP00000349297.5:p.Lys635Thr
ENST00000542255.6:c.783A>C
ENST00000543245.6:c.1973A>C	ENSP00000438689.2:p.Lys658Thr
ENST00000578033.1:n.329A>C
ENST00000578319.5:n.485A>C
ENST00000578711.1:n.1529A>C
ENST00000578809.5:n.476A>C
ENST00000579425.5:n.1020A>C
ENST00000583848.5:c.270A>C	ENSP00000466487.1:n.270A>C
ENST00000583850.5:n.675A>C
ENST00000583858.5:c.835A>C
NM_000018.3:c.1904A>C	NP_000009.1:p.Lys635Thr
NM_001033859.2:c.1838A>C	NP_001029031.1:p.Lys613Thr
NM_001270447.1:c.1973A>C	NP_001257376.1:p.Lys658Thr
NM_001270448.1:c.1676A>C	NP_001257377.1:p.Lys559Thr
XM_006721516.2:c.1925A>C	XP_006721579.2:p.Lys642Thr
XM_011523829.1:c.1823A>C	XP_011522131.1:p.Lys608Thr
XM_011523830.1:c.1802A>C	XP_011522132.1:p.Lys601Thr
XR_934021.1:n.2007A>C
XR_934022.1:n.1913A>C
XR_934023.1:n.1934A>C
XM_006721516.3:c.1925A>C	XP_006721579.2:p.Lys642Thr
XM_011523829.2:c.1823A>C	XP_011522131.1:p.Lys608Thr
XM_011523830.2:c.1802A>C	XP_011522132.1:p.Lys601Thr
XM_024450741.1:c.1892A>C	XP_024306509.1:p.Lys631Thr
XR_934021.2:n.1959A>C
XR_934022.2:n.1865A>C
XR_934023.2:n.1886A>C
NM_000018.4:c.1904A>C MANE Select	NP_000009.1:p.Lys635Thr
NM_001033859.3:c.1838A>C	NP_001029031.1:p.Lys613Thr
NM_001270447.2:c.1973A>C	NP_001257376.1:p.Lys658Thr
NM_001270448.2:c.1676A>C	NP_001257377.1:p.Lys559Thr