Canonical Allele Identifier: CA397726228

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128393A>G (hg19) ; chr17:g.7225074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225074A>G , CM000679.2:g.7225074A>G	GRCh38
NC_000017.10:g.7128393A>G , CM000679.1:g.7128393A>G	GRCh37
NC_000017.9:g.7069117A>G	NCBI36
NG_007975.1:g.10241A>G
NG_033038.1:g.14471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1945A>G MANE Select	ENSP00000349297.5:p.Thr649Ala
ENST00000322910.9:c.*1900A>G	ENSP00000325395.5:n.*1900A>G
ENST00000350303.9:c.1879A>G	ENSP00000344152.5:p.Thr627Ala
ENST00000356839.9:c.1945A>G	ENSP00000349297.5:p.Thr649Ala
ENST00000542255.6:c.824A>G
ENST00000543245.6:c.2014A>G	ENSP00000438689.2:p.Thr672Ala
ENST00000578033.1:n.370A>G
ENST00000578319.5:n.526A>G
ENST00000578711.1:n.1570A>G
ENST00000578809.5:n.517A>G
ENST00000579425.5:n.1061A>G
ENST00000583848.5:c.311A>G	ENSP00000466487.1:n.311A>G
ENST00000583850.5:n.716A>G
ENST00000583858.5:c.876A>G
NM_000018.3:c.1945A>G	NP_000009.1:p.Thr649Ala
NM_001033859.2:c.1879A>G	NP_001029031.1:p.Thr627Ala
NM_001270447.1:c.2014A>G	NP_001257376.1:p.Thr672Ala
NM_001270448.1:c.1717A>G	NP_001257377.1:p.Thr573Ala
XM_006721516.2:c.1966A>G	XP_006721579.2:p.Thr656Ala
XM_011523829.1:c.1864A>G	XP_011522131.1:p.Thr622Ala
XM_011523830.1:c.1843A>G	XP_011522132.1:p.Thr615Ala
XR_934021.1:n.2048A>G
XR_934022.1:n.1954A>G
XR_934023.1:n.1975A>G
XM_006721516.3:c.1966A>G	XP_006721579.2:p.Thr656Ala
XM_011523829.2:c.1864A>G	XP_011522131.1:p.Thr622Ala
XM_011523830.2:c.1843A>G	XP_011522132.1:p.Thr615Ala
XM_024450741.1:c.1933A>G	XP_024306509.1:p.Thr645Ala
XR_934021.2:n.2000A>G
XR_934022.2:n.1906A>G
XR_934023.2:n.1927A>G
NM_000018.4:c.1945A>G MANE Select	NP_000009.1:p.Thr649Ala
NM_001033859.3:c.1879A>G	NP_001029031.1:p.Thr627Ala
NM_001270447.2:c.2014A>G	NP_001257376.1:p.Thr672Ala
NM_001270448.2:c.1717A>G	NP_001257377.1:p.Thr573Ala