Canonical Allele Identifier: CA624860709

Gene: ACADVL

Linked Data

• dbSNP Id: rs1271483942
• gnomAD v2: 17-7127415-G-C
• gnomAD v3: 17-7224096-G-C
• gnomAD v4: 17-7224096-G-C
• MyVariant Identifiers: chr17:g.7127415G>C (hg19) ; chr17:g.7224096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224096G>C , CM000679.2:g.7224096G>C	GRCh38
NC_000017.10:g.7127415G>C , CM000679.1:g.7127415G>C	GRCh37
NC_000017.9:g.7068139G>C	NCBI36
NG_007975.1:g.9263G>C
NG_008391.2:g.955C>G
NG_033038.1:g.15449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+27G>C MANE Select	ENSP00000349297.5:n.1434+27G>C
ENST00000322910.9:c.*1389+27G>C	ENSP00000325395.5:n.*1389+27G>C
ENST00000350303.9:c.1368+27G>C	ENSP00000344152.5:n.1368+27G>C
ENST00000356839.9:c.1434+27G>C	ENSP00000349297.5:n.1434+27G>C
ENST00000542255.6:c.292+27G>C
ENST00000543245.6:c.1503+27G>C	ENSP00000438689.2:n.1503+27G>C
ENST00000578711.1:n.592G>C
ENST00000579425.5:n.550+27G>C
ENST00000579546.1:c.271+27G>C
ENST00000579894.5:n.172G>C
ENST00000583074.5:n.153+27G>C
ENST00000583850.5:n.209+27G>C
ENST00000583858.5:c.463+27G>C
ENST00000585203.6:n.625+27G>C
NM_000018.3:c.1434+27G>C	NP_000009.1:n.1434+27G>C
NM_001033859.2:c.1368+27G>C	NP_001029031.1:n.1368+27G>C
NM_001270447.1:c.1503+27G>C	NP_001257376.1:n.1503+27G>C
NM_001270448.1:c.1206+27G>C	NP_001257377.1:n.1206+27G>C
XM_006721516.2:c.1434+27G>C	XP_006721579.2:n.1434+27G>C
XM_011523829.1:c.1434+27G>C	XP_011522131.1:n.1434+27G>C
XM_011523830.1:c.1434+27G>C	XP_011522132.1:n.1434+27G>C
XR_934021.1:n.1541+27G>C
XR_934022.1:n.1541+27G>C
XR_934023.1:n.1541+27G>C
XM_006721516.3:c.1434+27G>C	XP_006721579.2:n.1434+27G>C
XM_011523829.2:c.1434+27G>C	XP_011522131.1:n.1434+27G>C
XM_011523830.2:c.1434+27G>C	XP_011522132.1:n.1434+27G>C
XM_024450741.1:c.1434+27G>C	XP_024306509.1:n.1434+27G>C
XR_934021.2:n.1493+27G>C
XR_934022.2:n.1493+27G>C
XR_934023.2:n.1493+27G>C
NM_000018.4:c.1434+27G>C MANE Select	NP_000009.1:n.1434+27G>C
NM_001033859.3:c.1368+27G>C	NP_001029031.1:n.1368+27G>C
NM_001270447.2:c.1503+27G>C	NP_001257376.1:n.1503+27G>C
NM_001270448.2:c.1206+27G>C	NP_001257377.1:n.1206+27G>C