Canonical Allele Identifier: CA2245714143

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071377735
• gnomAD v4: 17-7224418-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224418G>C , CM000679.2:g.7224418G>C	GRCh38
NC_000017.10:g.7127737G>C , CM000679.1:g.7127737G>C	GRCh37
NC_000017.9:g.7068461G>C	NCBI36
NG_007975.1:g.9585G>C
NG_008391.2:g.633C>G
NG_033038.1:g.15127C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+25G>C MANE Select	ENSP00000349297.5:n.1605+25G>C
ENST00000322910.9:c.*1560+25G>C	ENSP00000325395.5:n.*1560+25G>C
ENST00000350303.9:c.1539+25G>C	ENSP00000344152.5:n.1539+25G>C
ENST00000356839.9:c.1605+25G>C	ENSP00000349297.5:n.1605+25G>C
ENST00000542255.6:c.463+25G>C
ENST00000543245.6:c.1674+25G>C	ENSP00000438689.2:n.1674+25G>C
ENST00000578319.5:n.125G>C
ENST00000578711.1:n.914G>C
ENST00000578809.5:n.177+25G>C
ENST00000579391.1:n.213+25G>C
ENST00000579425.5:n.721+25G>C
ENST00000579546.1:c.344+25G>C
ENST00000579894.5:n.392+25G>C
ENST00000582450.1:n.113+25G>C
ENST00000583074.5:n.226+25G>C
ENST00000583850.5:n.380+25G>C
ENST00000583858.5:c.536+25G>C
ENST00000585203.6:n.796+25G>C
NM_000018.3:c.1605+25G>C	NP_000009.1:n.1605+25G>C
NM_001033859.2:c.1539+25G>C	NP_001029031.1:n.1539+25G>C
NM_001270447.1:c.1674+25G>C	NP_001257376.1:n.1674+25G>C
NM_001270448.1:c.1377+25G>C	NP_001257377.1:n.1377+25G>C
XM_006721516.2:c.1605+25G>C	XP_006721579.2:n.1605+25G>C
XM_011523829.1:c.1507+25G>C	XP_011522131.1:n.1507+25G>C
XM_011523830.1:c.1507+25G>C	XP_011522132.1:n.1507+25G>C
XR_934021.1:n.1712+25G>C
XR_934022.1:n.1614+25G>C
XR_934023.1:n.1614+25G>C
XM_006721516.3:c.1605+25G>C	XP_006721579.2:n.1605+25G>C
XM_011523829.2:c.1507+25G>C	XP_011522131.1:n.1507+25G>C
XM_011523830.2:c.1507+25G>C	XP_011522132.1:n.1507+25G>C
XM_024450741.1:c.1532G>C	XP_024306509.1:p.Ser511Thr
XR_934021.2:n.1664+25G>C
XR_934022.2:n.1566+25G>C
XR_934023.2:n.1566+25G>C
NM_000018.4:c.1605+25G>C MANE Select	NP_000009.1:n.1605+25G>C
NM_001033859.3:c.1539+25G>C	NP_001029031.1:n.1539+25G>C
NM_001270447.2:c.1674+25G>C	NP_001257376.1:n.1674+25G>C
NM_001270448.2:c.1377+25G>C	NP_001257377.1:n.1377+25G>C