Canonical Allele Identifier: CA397726254

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2746191
• ClinVar RCV Id: RCV003497720
• dbSNP Id: rs1567570119
• gnomAD v3: 17-7225084-C-T
• gnomAD v4: 17-7225084-C-T
• COSMIC: COSM217142
• MyVariant Identifiers: chr17:g.7128403C>T (hg19) ; chr17:g.7225084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225084C>T , CM000679.2:g.7225084C>T	GRCh38
NC_000017.10:g.7128403C>T , CM000679.1:g.7128403C>T	GRCh37
NC_000017.9:g.7069127C>T	NCBI36
NG_007975.1:g.10251C>T
NG_033038.1:g.14461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1955C>T MANE Select	ENSP00000349297.5:p.Pro652Leu
ENST00000322910.9:c.*1910C>T	ENSP00000325395.5:n.*1910C>T
ENST00000350303.9:c.1889C>T	ENSP00000344152.5:p.Pro630Leu
ENST00000356839.9:c.1955C>T	ENSP00000349297.5:p.Pro652Leu
ENST00000542255.6:c.834C>T
ENST00000543245.6:c.2024C>T	ENSP00000438689.2:p.Pro675Leu
ENST00000578033.1:n.380C>T
ENST00000578319.5:n.536C>T
ENST00000578711.1:n.1580C>T
ENST00000578809.5:n.527C>T
ENST00000579425.5:n.1071C>T
ENST00000583848.5:c.321C>T	ENSP00000466487.1:n.321C>T
ENST00000583850.5:n.726C>T
ENST00000583858.5:c.886C>T
NM_000018.3:c.1955C>T	NP_000009.1:p.Pro652Leu
NM_001033859.2:c.1889C>T	NP_001029031.1:p.Pro630Leu
NM_001270447.1:c.2024C>T	NP_001257376.1:p.Pro675Leu
NM_001270448.1:c.1727C>T	NP_001257377.1:p.Pro576Leu
XM_006721516.2:c.1976C>T	XP_006721579.2:p.Pro659Leu
XM_011523829.1:c.1874C>T	XP_011522131.1:p.Pro625Leu
XM_011523830.1:c.1853C>T	XP_011522132.1:p.Pro618Leu
XR_934021.1:n.2058C>T
XR_934022.1:n.1964C>T
XR_934023.1:n.1985C>T
XM_006721516.3:c.1976C>T	XP_006721579.2:p.Pro659Leu
XM_011523829.2:c.1874C>T	XP_011522131.1:p.Pro625Leu
XM_011523830.2:c.1853C>T	XP_011522132.1:p.Pro618Leu
XM_024450741.1:c.1943C>T	XP_024306509.1:p.Pro648Leu
XR_934021.2:n.2010C>T
XR_934022.2:n.1916C>T
XR_934023.2:n.1937C>T
NM_000018.4:c.1955C>T MANE Select	NP_000009.1:p.Pro652Leu
NM_001033859.3:c.1889C>T	NP_001029031.1:p.Pro630Leu
NM_001270447.2:c.2024C>T	NP_001257376.1:p.Pro675Leu
NM_001270448.2:c.1727C>T	NP_001257377.1:p.Pro576Leu