Canonical Allele Identifier: CA2635784365

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224430-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224430G>T , CM000679.2:g.7224430G>T	GRCh38
NC_000017.10:g.7127749G>T , CM000679.1:g.7127749G>T	GRCh37
NC_000017.9:g.7068473G>T	NCBI36
NG_007975.1:g.9597G>T
NG_008391.2:g.621C>A
NG_033038.1:g.15115C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+37G>T MANE Select	ENSP00000349297.5:n.1605+37G>T
ENST00000322910.9:c.*1560+37G>T	ENSP00000325395.5:n.*1560+37G>T
ENST00000350303.9:c.1539+37G>T	ENSP00000344152.5:n.1539+37G>T
ENST00000356839.9:c.1605+37G>T	ENSP00000349297.5:n.1605+37G>T
ENST00000542255.6:c.463+37G>T
ENST00000543245.6:c.1674+37G>T	ENSP00000438689.2:n.1674+37G>T
ENST00000578319.5:n.137G>T
ENST00000578711.1:n.926G>T
ENST00000578809.5:n.177+37G>T
ENST00000579391.1:n.213+37G>T
ENST00000579425.5:n.721+37G>T
ENST00000579546.1:c.344+37G>T
ENST00000579894.5:n.392+37G>T
ENST00000582450.1:n.113+37G>T
ENST00000583074.5:n.226+37G>T
ENST00000583850.5:n.380+37G>T
ENST00000583858.5:c.536+37G>T
ENST00000585203.6:n.796+37G>T
NM_000018.3:c.1605+37G>T	NP_000009.1:n.1605+37G>T
NM_001033859.2:c.1539+37G>T	NP_001029031.1:n.1539+37G>T
NM_001270447.1:c.1674+37G>T	NP_001257376.1:n.1674+37G>T
NM_001270448.1:c.1377+37G>T	NP_001257377.1:n.1377+37G>T
XM_006721516.2:c.1605+37G>T	XP_006721579.2:n.1605+37G>T
XM_011523829.1:c.1507+37G>T	XP_011522131.1:n.1507+37G>T
XM_011523830.1:c.1507+37G>T	XP_011522132.1:n.1507+37G>T
XR_934021.1:n.1712+37G>T
XR_934022.1:n.1614+37G>T
XR_934023.1:n.1614+37G>T
XM_006721516.3:c.1605+37G>T	XP_006721579.2:n.1605+37G>T
XM_011523829.2:c.1507+37G>T	XP_011522131.1:n.1507+37G>T
XM_011523830.2:c.1507+37G>T	XP_011522132.1:n.1507+37G>T
XM_024450741.1:c.1544G>T	XP_024306509.1:p.Gly515Val
XR_934021.2:n.1664+37G>T
XR_934022.2:n.1566+37G>T
XR_934023.2:n.1566+37G>T
NM_000018.4:c.1605+37G>T MANE Select	NP_000009.1:n.1605+37G>T
NM_001033859.3:c.1539+37G>T	NP_001029031.1:n.1539+37G>T
NM_001270447.2:c.1674+37G>T	NP_001257376.1:n.1674+37G>T
NM_001270448.2:c.1377+37G>T	NP_001257377.1:n.1377+37G>T