Canonical Allele Identifier: CA397724781

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127148T>C (hg19) ; chr17:g.7223829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223829T>C , CM000679.2:g.7223829T>C	GRCh38
NC_000017.10:g.7127148T>C , CM000679.1:g.7127148T>C	GRCh37
NC_000017.9:g.7067872T>C	NCBI36
NG_007975.1:g.8996T>C
NG_008391.2:g.1222A>G
NG_033038.1:g.15716A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1286T>C MANE Select	ENSP00000349297.5:p.Val429Ala
ENST00000322910.9:c.*1241T>C	ENSP00000325395.5:n.*1241T>C
ENST00000350303.9:c.1220T>C	ENSP00000344152.5:p.Val407Ala
ENST00000356839.9:c.1286T>C	ENSP00000349297.5:p.Val429Ala
ENST00000542255.6:c.144T>C
ENST00000543245.6:c.1355T>C	ENSP00000438689.2:p.Val452Ala
ENST00000578579.2:n.457T>C
ENST00000578711.1:n.325T>C
ENST00000578824.5:n.702T>C
ENST00000579425.5:n.310T>C
ENST00000579546.1:c.123T>C
ENST00000583074.5:n.5T>C
ENST00000583850.5:n.61T>C
ENST00000583858.5:c.315T>C
ENST00000585203.6:n.494T>C
NM_000018.3:c.1286T>C	NP_000009.1:p.Val429Ala
NM_001033859.2:c.1220T>C	NP_001029031.1:p.Val407Ala
NM_001270447.1:c.1355T>C	NP_001257376.1:p.Val452Ala
NM_001270448.1:c.1058T>C	NP_001257377.1:p.Val353Ala
XM_006721516.2:c.1286T>C	XP_006721579.2:p.Val429Ala
XM_011523829.1:c.1286T>C	XP_011522131.1:p.Val429Ala
XM_011523830.1:c.1286T>C	XP_011522132.1:p.Val429Ala
XR_934021.1:n.1393T>C
XR_934022.1:n.1393T>C
XR_934023.1:n.1393T>C
XM_006721516.3:c.1286T>C	XP_006721579.2:p.Val429Ala
XM_011523829.2:c.1286T>C	XP_011522131.1:p.Val429Ala
XM_011523830.2:c.1286T>C	XP_011522132.1:p.Val429Ala
XM_024450741.1:c.1286T>C	XP_024306509.1:p.Val429Ala
XR_934021.2:n.1345T>C
XR_934022.2:n.1345T>C
XR_934023.2:n.1345T>C
NM_000018.4:c.1286T>C MANE Select	NP_000009.1:p.Val429Ala
NM_001033859.3:c.1220T>C	NP_001029031.1:p.Val407Ala
NM_001270447.2:c.1355T>C	NP_001257376.1:p.Val452Ala
NM_001270448.2:c.1058T>C	NP_001257377.1:p.Val353Ala