Canonical Allele Identifier: CA397726039

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224984-G-C
• MyVariant Identifiers: chr17:g.7128303G>C (hg19) ; chr17:g.7224984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224984G>C , CM000679.2:g.7224984G>C	GRCh38
NC_000017.10:g.7128303G>C , CM000679.1:g.7128303G>C	GRCh37
NC_000017.9:g.7069027G>C	NCBI36
NG_007975.1:g.10151G>C
NG_008391.2:g.67C>G
NG_033038.1:g.14561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1855G>C MANE Select	ENSP00000349297.5:p.Ala619Pro
ENST00000322910.9:c.*1810G>C	ENSP00000325395.5:n.*1810G>C
ENST00000350303.9:c.1789G>C	ENSP00000344152.5:p.Ala597Pro
ENST00000356839.9:c.1855G>C	ENSP00000349297.5:p.Ala619Pro
ENST00000542255.6:c.734G>C
ENST00000543245.6:c.1924G>C	ENSP00000438689.2:p.Ala642Pro
ENST00000578033.1:n.280G>C
ENST00000578319.5:n.436G>C
ENST00000578711.1:n.1480G>C
ENST00000578809.5:n.427G>C
ENST00000579425.5:n.971G>C
ENST00000583848.5:c.221G>C	ENSP00000466487.1:n.221G>C
ENST00000583850.5:n.626G>C
ENST00000583858.5:c.786G>C
NM_000018.3:c.1855G>C	NP_000009.1:p.Ala619Pro
NM_001033859.2:c.1789G>C	NP_001029031.1:p.Ala597Pro
NM_001270447.1:c.1924G>C	NP_001257376.1:p.Ala642Pro
NM_001270448.1:c.1627G>C	NP_001257377.1:p.Ala543Pro
XM_006721516.2:c.1876G>C	XP_006721579.2:p.Ala626Pro
XM_011523829.1:c.1774G>C	XP_011522131.1:p.Ala592Pro
XM_011523830.1:c.1753G>C	XP_011522132.1:p.Ala585Pro
XR_934021.1:n.1958G>C
XR_934022.1:n.1864G>C
XR_934023.1:n.1885G>C
XM_006721516.3:c.1876G>C	XP_006721579.2:p.Ala626Pro
XM_011523829.2:c.1774G>C	XP_011522131.1:p.Ala592Pro
XM_011523830.2:c.1753G>C	XP_011522132.1:p.Ala585Pro
XM_024450741.1:c.1843G>C	XP_024306509.1:p.Ala615Pro
XR_934021.2:n.1910G>C
XR_934022.2:n.1816G>C
XR_934023.2:n.1837G>C
NM_000018.4:c.1855G>C MANE Select	NP_000009.1:p.Ala619Pro
NM_001033859.3:c.1789G>C	NP_001029031.1:p.Ala597Pro
NM_001270447.2:c.1924G>C	NP_001257376.1:p.Ala642Pro
NM_001270448.2:c.1627G>C	NP_001257377.1:p.Ala543Pro