Canonical Allele Identifier: CA397726230

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1945A>C MANE Select	ENSP00000349297.5:p.Thr649Pro
ENST00000322910.9:c.*1900A>C	ENSP00000325395.5:n.*1900A>C
ENST00000350303.9:c.1879A>C	ENSP00000344152.5:p.Thr627Pro
ENST00000356839.9:c.1945A>C	ENSP00000349297.5:p.Thr649Pro
ENST00000542255.6:c.824A>C
ENST00000543245.6:c.2014A>C	ENSP00000438689.2:p.Thr672Pro
ENST00000578033.1:n.370A>C
ENST00000578319.5:n.526A>C
ENST00000578711.1:n.1570A>C
ENST00000578809.5:n.517A>C
ENST00000579425.5:n.1061A>C
ENST00000583848.5:c.311A>C	ENSP00000466487.1:n.311A>C
ENST00000583850.5:n.716A>C
ENST00000583858.5:c.876A>C
NM_000018.3:c.1945A>C	NP_000009.1:p.Thr649Pro
NM_001033859.2:c.1879A>C	NP_001029031.1:p.Thr627Pro
NM_001270447.1:c.2014A>C	NP_001257376.1:p.Thr672Pro
NM_001270448.1:c.1717A>C	NP_001257377.1:p.Thr573Pro
XM_006721516.2:c.1966A>C	XP_006721579.2:p.Thr656Pro
XM_011523829.1:c.1864A>C	XP_011522131.1:p.Thr622Pro
XM_011523830.1:c.1843A>C	XP_011522132.1:p.Thr615Pro
XR_934021.1:n.2048A>C
XR_934022.1:n.1954A>C
XR_934023.1:n.1975A>C
XM_006721516.3:c.1966A>C	XP_006721579.2:p.Thr656Pro
XM_011523829.2:c.1864A>C	XP_011522131.1:p.Thr622Pro
XM_011523830.2:c.1843A>C	XP_011522132.1:p.Thr615Pro
XM_024450741.1:c.1933A>C	XP_024306509.1:p.Thr645Pro
XR_934021.2:n.2000A>C
XR_934022.2:n.1906A>C
XR_934023.2:n.1927A>C
NM_000018.4:c.1945A>C MANE Select	NP_000009.1:p.Thr649Pro
NM_001033859.3:c.1879A>C	NP_001029031.1:p.Thr627Pro
NM_001270447.2:c.2014A>C	NP_001257376.1:p.Thr672Pro
NM_001270448.2:c.1717A>C	NP_001257377.1:p.Thr573Pro