Canonical Allele Identifier: CA2635780660

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221188-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221188G>T , CM000679.2:g.7221188G>T	GRCh38
NC_000017.10:g.7124507G>T , CM000679.1:g.7124507G>T	GRCh37
NC_000017.9:g.7065231G>T	NCBI36
NG_007975.1:g.6355G>T
NG_008391.2:g.3863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+130G>T MANE Select	ENSP00000349297.5:n.477+130G>T
ENST00000322910.9:c.*432+130G>T	ENSP00000325395.5:n.*432+130G>T
ENST00000350303.9:c.411+130G>T	ENSP00000344152.5:n.411+130G>T
ENST00000356839.9:c.477+130G>T	ENSP00000349297.5:n.477+130G>T
ENST00000543245.6:c.546+130G>T	ENSP00000438689.2:n.546+130G>T
ENST00000577191.5:n.554+130G>T
ENST00000577433.5:n.685+130G>T
ENST00000577857.5:n.294-350G>T
ENST00000579286.5:n.658+130G>T
ENST00000579886.2:c.315+130G>T	ENSP00000463246.1:n.315+130G>T
ENST00000580365.1:n.208+130G>T
ENST00000581378.5:c.176+130G>T
ENST00000581562.5:n.524+130G>T
ENST00000582166.1:n.458+130G>T
ENST00000583312.5:c.477+130G>T	ENSP00000467920.1:n.477+130G>T
NM_000018.3:c.477+130G>T	NP_000009.1:n.477+130G>T
NM_001033859.2:c.411+130G>T	NP_001029031.1:n.411+130G>T
NM_001270447.1:c.546+130G>T	NP_001257376.1:n.546+130G>T
NM_001270448.1:c.249+130G>T	NP_001257377.1:n.249+130G>T
XM_006721516.2:c.477+130G>T	XP_006721579.2:n.477+130G>T
XM_011523829.1:c.477+130G>T	XP_011522131.1:n.477+130G>T
XM_011523830.1:c.477+130G>T	XP_011522132.1:n.477+130G>T
XR_934021.1:n.584+130G>T
XR_934022.1:n.584+130G>T
XR_934023.1:n.584+130G>T
XM_006721516.3:c.477+130G>T	XP_006721579.2:n.477+130G>T
XM_011523829.2:c.477+130G>T	XP_011522131.1:n.477+130G>T
XM_011523830.2:c.477+130G>T	XP_011522132.1:n.477+130G>T
XM_024450741.1:c.477+130G>T	XP_024306509.1:n.477+130G>T
XR_934021.2:n.536+130G>T
XR_934022.2:n.536+130G>T
XR_934023.2:n.536+130G>T
NM_000018.4:c.477+130G>T MANE Select	NP_000009.1:n.477+130G>T
NM_001033859.3:c.411+130G>T	NP_001029031.1:n.411+130G>T
NM_001270447.2:c.546+130G>T	NP_001257376.1:n.546+130G>T
NM_001270448.2:c.249+130G>T	NP_001257377.1:n.249+130G>T