Canonical Allele Identifier: CA397724549

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223648-T-C
• MyVariant Identifiers: chr17:g.7126967T>C (hg19) ; chr17:g.7223648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223648T>C , CM000679.2:g.7223648T>C	GRCh38
NC_000017.10:g.7126967T>C , CM000679.1:g.7126967T>C	GRCh37
NC_000017.9:g.7067691T>C	NCBI36
NG_007975.1:g.8815T>C
NG_008391.2:g.1403A>G
NG_033038.1:g.15897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1187T>C MANE Select	ENSP00000349297.5:p.Met396Thr
ENST00000322910.9:c.*1142T>C	ENSP00000325395.5:n.*1142T>C
ENST00000350303.9:c.1121T>C	ENSP00000344152.5:p.Met374Thr
ENST00000356839.9:c.1187T>C	ENSP00000349297.5:p.Met396Thr
ENST00000542255.6:c.45T>C
ENST00000543245.6:c.1256T>C	ENSP00000438689.2:p.Met419Thr
ENST00000578579.2:n.358T>C
ENST00000578711.1:n.144T>C
ENST00000578824.5:n.603T>C
ENST00000579425.5:n.211T>C
ENST00000579546.1:c.24T>C
ENST00000583858.5:c.216T>C
ENST00000585203.6:n.395T>C
NM_000018.3:c.1187T>C	NP_000009.1:p.Met396Thr
NM_001033859.2:c.1121T>C	NP_001029031.1:p.Met374Thr
NM_001270447.1:c.1256T>C	NP_001257376.1:p.Met419Thr
NM_001270448.1:c.959T>C	NP_001257377.1:p.Met320Thr
XM_006721516.2:c.1187T>C	XP_006721579.2:p.Met396Thr
XM_011523829.1:c.1187T>C	XP_011522131.1:p.Met396Thr
XM_011523830.1:c.1187T>C	XP_011522132.1:p.Met396Thr
XR_934021.1:n.1294T>C
XR_934022.1:n.1294T>C
XR_934023.1:n.1294T>C
XM_006721516.3:c.1187T>C	XP_006721579.2:p.Met396Thr
XM_011523829.2:c.1187T>C	XP_011522131.1:p.Met396Thr
XM_011523830.2:c.1187T>C	XP_011522132.1:p.Met396Thr
XM_024450741.1:c.1187T>C	XP_024306509.1:p.Met396Thr
XR_934021.2:n.1246T>C
XR_934022.2:n.1246T>C
XR_934023.2:n.1246T>C
NM_000018.4:c.1187T>C MANE Select	NP_000009.1:p.Met396Thr
NM_001033859.3:c.1121T>C	NP_001029031.1:p.Met374Thr
NM_001270447.2:c.1256T>C	NP_001257376.1:p.Met419Thr
NM_001270448.2:c.959T>C	NP_001257377.1:p.Met320Thr