Canonical Allele Identifier: CA624861306

Gene: ACADVL

Linked Data

• dbSNP Id: rs1198174656
• gnomAD v2: 17-7126927-A-C
• gnomAD v4: 17-7223608-A-C
• MyVariant Identifiers: chr17:g.7126927A>C (hg19) ; chr17:g.7223608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223608A>C , CM000679.2:g.7223608A>C	GRCh38
NC_000017.10:g.7126927A>C , CM000679.1:g.7126927A>C	GRCh37
NC_000017.9:g.7067651A>C	NCBI36
NG_007975.1:g.8775A>C
NG_008391.2:g.1443T>G
NG_033038.1:g.15937T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1183-36A>C MANE Select	ENSP00000349297.5:n.1183-36A>C
ENST00000322910.9:c.*1138-36A>C	ENSP00000325395.5:n.*1138-36A>C
ENST00000350303.9:c.1117-36A>C	ENSP00000344152.5:n.1117-36A>C
ENST00000356839.9:c.1183-36A>C	ENSP00000349297.5:n.1183-36A>C
ENST00000542255.6:c.41-36A>C
ENST00000543245.6:c.1252-36A>C	ENSP00000438689.2:n.1252-36A>C
ENST00000578579.2:n.318A>C
ENST00000578711.1:n.104A>C
ENST00000578824.5:n.599-36A>C
ENST00000579425.5:n.207-36A>C
ENST00000579546.1:c.20-36A>C
ENST00000583858.5:c.212-36A>C
ENST00000585203.6:n.391-36A>C
NM_000018.3:c.1183-36A>C	NP_000009.1:n.1183-36A>C
NM_001033859.2:c.1117-36A>C	NP_001029031.1:n.1117-36A>C
NM_001270447.1:c.1252-36A>C	NP_001257376.1:n.1252-36A>C
NM_001270448.1:c.955-36A>C	NP_001257377.1:n.955-36A>C
XM_006721516.2:c.1183-36A>C	XP_006721579.2:n.1183-36A>C
XM_011523829.1:c.1183-36A>C	XP_011522131.1:n.1183-36A>C
XM_011523830.1:c.1183-36A>C	XP_011522132.1:n.1183-36A>C
XR_934021.1:n.1290-36A>C
XR_934022.1:n.1290-36A>C
XR_934023.1:n.1290-36A>C
XM_006721516.3:c.1183-36A>C	XP_006721579.2:n.1183-36A>C
XM_011523829.2:c.1183-36A>C	XP_011522131.1:n.1183-36A>C
XM_011523830.2:c.1183-36A>C	XP_011522132.1:n.1183-36A>C
XM_024450741.1:c.1183-36A>C	XP_024306509.1:n.1183-36A>C
XR_934021.2:n.1242-36A>C
XR_934022.2:n.1242-36A>C
XR_934023.2:n.1242-36A>C
NM_000018.4:c.1183-36A>C MANE Select	NP_000009.1:n.1183-36A>C
NM_001033859.3:c.1117-36A>C	NP_001029031.1:n.1117-36A>C
NM_001270447.2:c.1252-36A>C	NP_001257376.1:n.1252-36A>C
NM_001270448.2:c.955-36A>C	NP_001257377.1:n.955-36A>C