Canonical Allele Identifier: CA397725454

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224386-G-T
• MyVariant Identifiers: chr17:g.7127705G>T (hg19) ; chr17:g.7224386G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224386G>T , CM000679.2:g.7224386G>T	GRCh38
NC_000017.10:g.7127705G>T , CM000679.1:g.7127705G>T	GRCh37
NC_000017.9:g.7068429G>T	NCBI36
NG_007975.1:g.9553G>T
NG_008391.2:g.665C>A
NG_033038.1:g.15159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1598G>T MANE Select	ENSP00000349297.5:p.Gly533Val
ENST00000322910.9:c.*1553G>T	ENSP00000325395.5:n.*1553G>T
ENST00000350303.9:c.1532G>T	ENSP00000344152.5:p.Gly511Val
ENST00000356839.9:c.1598G>T	ENSP00000349297.5:p.Gly533Val
ENST00000542255.6:c.456G>T
ENST00000543245.6:c.1667G>T	ENSP00000438689.2:p.Gly556Val
ENST00000578319.5:n.93G>T
ENST00000578711.1:n.882G>T
ENST00000578809.5:n.170G>T
ENST00000579391.1:n.206G>T
ENST00000579425.5:n.714G>T
ENST00000579546.1:c.337G>T
ENST00000579894.5:n.385G>T
ENST00000582450.1:n.106G>T
ENST00000583074.5:n.219G>T
ENST00000583850.5:n.373G>T
ENST00000583858.5:c.529G>T
ENST00000585203.6:n.789G>T
NM_000018.3:c.1598G>T	NP_000009.1:p.Gly533Val
NM_001033859.2:c.1532G>T	NP_001029031.1:p.Gly511Val
NM_001270447.1:c.1667G>T	NP_001257376.1:p.Gly556Val
NM_001270448.1:c.1370G>T	NP_001257377.1:p.Gly457Val
XM_006721516.2:c.1598G>T	XP_006721579.2:p.Gly533Val
XM_011523829.1:c.1500G>T	XP_011522131.1:p.Trp500Cys
XM_011523830.1:c.1500G>T	XP_011522132.1:p.Trp500Cys
XR_934021.1:n.1705G>T
XR_934022.1:n.1607G>T
XR_934023.1:n.1607G>T
XM_006721516.3:c.1598G>T	XP_006721579.2:p.Gly533Val
XM_011523829.2:c.1500G>T	XP_011522131.1:p.Trp500Cys
XM_011523830.2:c.1500G>T	XP_011522132.1:p.Trp500Cys
XM_024450741.1:c.1500G>T	XP_024306509.1:p.Trp500Cys
XR_934021.2:n.1657G>T
XR_934022.2:n.1559G>T
XR_934023.2:n.1559G>T
NM_000018.4:c.1598G>T MANE Select	NP_000009.1:p.Gly533Val
NM_001033859.3:c.1532G>T	NP_001029031.1:p.Gly511Val
NM_001270447.2:c.1667G>T	NP_001257376.1:p.Gly556Val
NM_001270448.2:c.1370G>T	NP_001257377.1:p.Gly457Val