Canonical Allele Identifier: CA397725198

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127502T>C (hg19) ; chr17:g.7224183T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224183T>C , CM000679.2:g.7224183T>C	GRCh38
NC_000017.10:g.7127502T>C , CM000679.1:g.7127502T>C	GRCh37
NC_000017.9:g.7068226T>C	NCBI36
NG_007975.1:g.9350T>C
NG_008391.2:g.868A>G
NG_033038.1:g.15362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1472T>C MANE Select	ENSP00000349297.5:p.Leu491Pro
ENST00000322910.9:c.*1427T>C	ENSP00000325395.5:n.*1427T>C
ENST00000350303.9:c.1406T>C	ENSP00000344152.5:p.Leu469Pro
ENST00000356839.9:c.1472T>C	ENSP00000349297.5:p.Leu491Pro
ENST00000542255.6:c.330T>C
ENST00000543245.6:c.1541T>C	ENSP00000438689.2:p.Leu514Pro
ENST00000578711.1:n.679T>C
ENST00000579391.1:n.80T>C
ENST00000579425.5:n.588T>C
ENST00000579546.1:c.271+114T>C
ENST00000579894.5:n.259T>C
ENST00000583074.5:n.153+114T>C
ENST00000583850.5:n.247T>C
ENST00000583858.5:c.463+114T>C
ENST00000585203.6:n.663T>C
NM_000018.3:c.1472T>C	NP_000009.1:p.Leu491Pro
NM_001033859.2:c.1406T>C	NP_001029031.1:p.Leu469Pro
NM_001270447.1:c.1541T>C	NP_001257376.1:p.Leu514Pro
NM_001270448.1:c.1244T>C	NP_001257377.1:p.Leu415Pro
XM_006721516.2:c.1472T>C	XP_006721579.2:p.Leu491Pro
XM_011523829.1:c.1434+114T>C	XP_011522131.1:n.1434+114T>C
XM_011523830.1:c.1434+114T>C	XP_011522132.1:n.1434+114T>C
XR_934021.1:n.1579T>C
XR_934022.1:n.1541+114T>C
XR_934023.1:n.1541+114T>C
XM_006721516.3:c.1472T>C	XP_006721579.2:p.Leu491Pro
XM_011523829.2:c.1434+114T>C	XP_011522131.1:n.1434+114T>C
XM_011523830.2:c.1434+114T>C	XP_011522132.1:n.1434+114T>C
XM_024450741.1:c.1434+114T>C	XP_024306509.1:n.1434+114T>C
XR_934021.2:n.1531T>C
XR_934022.2:n.1493+114T>C
XR_934023.2:n.1493+114T>C
NM_000018.4:c.1472T>C MANE Select	NP_000009.1:p.Leu491Pro
NM_001033859.3:c.1406T>C	NP_001029031.1:p.Leu469Pro
NM_001270447.2:c.1541T>C	NP_001257376.1:p.Leu514Pro
NM_001270448.2:c.1244T>C	NP_001257377.1:p.Leu415Pro