Canonical Allele Identifier: CA2573154576

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1606825
• ClinVar RCV Id: RCV002152231
• dbSNP Id: rs2142984714

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223746T>C , CM000679.2:g.7223746T>C	GRCh38
NC_000017.10:g.7127065T>C , CM000679.1:g.7127065T>C	GRCh37
NC_000017.9:g.7067789T>C	NCBI36
NG_007975.1:g.8913T>C
NG_008391.2:g.1305A>G
NG_033038.1:g.15799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1269+16T>C MANE Select	ENSP00000349297.5:n.1269+16T>C
ENST00000322910.9:c.*1224+16T>C	ENSP00000325395.5:n.*1224+16T>C
ENST00000350303.9:c.1203+16T>C	ENSP00000344152.5:n.1203+16T>C
ENST00000356839.9:c.1269+16T>C	ENSP00000349297.5:n.1269+16T>C
ENST00000542255.6:c.127+16T>C
ENST00000543245.6:c.1338+16T>C	ENSP00000438689.2:n.1338+16T>C
ENST00000578579.2:n.440+16T>C
ENST00000578711.1:n.242T>C
ENST00000578824.5:n.685+16T>C
ENST00000579425.5:n.293+16T>C
ENST00000579546.1:c.106+16T>C
ENST00000583850.5:n.44+16T>C
ENST00000583858.5:c.298+16T>C
ENST00000585203.6:n.477+16T>C
NM_000018.3:c.1269+16T>C	NP_000009.1:n.1269+16T>C
NM_001033859.2:c.1203+16T>C	NP_001029031.1:n.1203+16T>C
NM_001270447.1:c.1338+16T>C	NP_001257376.1:n.1338+16T>C
NM_001270448.1:c.1041+16T>C	NP_001257377.1:n.1041+16T>C
XM_006721516.2:c.1269+16T>C	XP_006721579.2:n.1269+16T>C
XM_011523829.1:c.1269+16T>C	XP_011522131.1:n.1269+16T>C
XM_011523830.1:c.1269+16T>C	XP_011522132.1:n.1269+16T>C
XR_934021.1:n.1376+16T>C
XR_934022.1:n.1376+16T>C
XR_934023.1:n.1376+16T>C
XM_006721516.3:c.1269+16T>C	XP_006721579.2:n.1269+16T>C
XM_011523829.2:c.1269+16T>C	XP_011522131.1:n.1269+16T>C
XM_011523830.2:c.1269+16T>C	XP_011522132.1:n.1269+16T>C
XM_024450741.1:c.1269+16T>C	XP_024306509.1:n.1269+16T>C
XR_934021.2:n.1328+16T>C
XR_934022.2:n.1328+16T>C
XR_934023.2:n.1328+16T>C
NM_000018.4:c.1269+16T>C MANE Select	NP_000009.1:n.1269+16T>C
NM_001033859.3:c.1203+16T>C	NP_001029031.1:n.1203+16T>C
NM_001270447.2:c.1338+16T>C	NP_001257376.1:n.1338+16T>C
NM_001270448.2:c.1041+16T>C	NP_001257377.1:n.1041+16T>C