Canonical Allele Identifier: CA312251

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 203572
• ClinVar RCV Id: RCV000185711 ; RCV000675132
• dbSNP Id: rs796051908
• gnomAD v4: 17-7221542-C-T
• MyVariant Identifiers: chr17:g.7124861C>T (hg19) ; chr17:g.7221542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221542C>T , CM000679.2:g.7221542C>T	GRCh38
NC_000017.10:g.7124861C>T , CM000679.1:g.7124861C>T	GRCh37
NC_000017.9:g.7065585C>T	NCBI36
NG_007975.1:g.6709C>T
NG_008391.2:g.3509G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.482C>T MANE Select	ENSP00000349297.5:p.Ala161Val
ENST00000322910.9:c.*437C>T	ENSP00000325395.5:n.*437C>T
ENST00000350303.9:c.416C>T	ENSP00000344152.5:p.Ala139Val
ENST00000356839.9:c.482C>T	ENSP00000349297.5:p.Ala161Val
ENST00000543245.6:c.551C>T	ENSP00000438689.2:p.Ala184Val
ENST00000577191.5:n.559C>T
ENST00000577433.5:n.690C>T
ENST00000577857.5:n.298C>T
ENST00000579286.5:n.663C>T
ENST00000579886.2:c.320C>T	ENSP00000463246.1:p.Ala107Val
ENST00000580365.1:n.213C>T
ENST00000581378.5:c.200C>T
ENST00000581562.5:n.525-410C>T
ENST00000582166.1:n.463C>T
ENST00000583312.5:c.482C>T	ENSP00000467920.1:p.Ala161Val
ENST00000583760.1:n.264C>T
NM_000018.3:c.482C>T	NP_000009.1:p.Ala161Val
NM_001033859.2:c.416C>T	NP_001029031.1:p.Ala139Val
NM_001270447.1:c.551C>T	NP_001257376.1:p.Ala184Val
NM_001270448.1:c.254C>T	NP_001257377.1:p.Ala85Val
XM_006721516.2:c.482C>T	XP_006721579.2:p.Ala161Val
XM_011523829.1:c.482C>T	XP_011522131.1:p.Ala161Val
XM_011523830.1:c.482C>T	XP_011522132.1:p.Ala161Val
XR_934021.1:n.589C>T
XR_934022.1:n.589C>T
XR_934023.1:n.589C>T
XM_006721516.3:c.482C>T	XP_006721579.2:p.Ala161Val
XM_011523829.2:c.482C>T	XP_011522131.1:p.Ala161Val
XM_011523830.2:c.482C>T	XP_011522132.1:p.Ala161Val
XM_024450741.1:c.482C>T	XP_024306509.1:p.Ala161Val
XR_934021.2:n.541C>T
XR_934022.2:n.541C>T
XR_934023.2:n.541C>T
NM_000018.4:c.482C>T MANE Select	NP_000009.1:p.Ala161Val
NM_001033859.3:c.416C>T	NP_001029031.1:p.Ala139Val
NM_001270447.2:c.551C>T	NP_001257376.1:p.Ala184Val
NM_001270448.2:c.254C>T	NP_001257377.1:p.Ala85Val