Canonical Allele Identifier: CA397725572

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127845T>C (hg19) ; chr17:g.7224526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224526T>C , CM000679.2:g.7224526T>C	GRCh38
NC_000017.10:g.7127845T>C , CM000679.1:g.7127845T>C	GRCh37
NC_000017.9:g.7068569T>C	NCBI36
NG_007975.1:g.9693T>C
NG_008391.2:g.525A>G
NG_033038.1:g.15019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1652T>C MANE Select	ENSP00000349297.5:p.Leu551Pro
ENST00000322910.9:c.*1607T>C	ENSP00000325395.5:n.*1607T>C
ENST00000350303.9:c.1586T>C	ENSP00000344152.5:p.Leu529Pro
ENST00000356839.9:c.1652T>C	ENSP00000349297.5:p.Leu551Pro
ENST00000542255.6:c.510T>C
ENST00000543245.6:c.1721T>C	ENSP00000438689.2:p.Leu574Pro
ENST00000578319.5:n.233T>C
ENST00000578711.1:n.1022T>C
ENST00000578809.5:n.224T>C
ENST00000579391.1:n.256T>C
ENST00000579425.5:n.768T>C
ENST00000579546.1:c.387T>C
ENST00000582450.1:n.160T>C
ENST00000583074.5:n.273T>C
ENST00000583848.5:c.38T>C	ENSP00000466487.1:p.Leu13Pro
ENST00000583850.5:n.423T>C
ENST00000583858.5:c.583T>C
ENST00000585203.6:n.843T>C
NM_000018.3:c.1652T>C	NP_000009.1:p.Leu551Pro
NM_001033859.2:c.1586T>C	NP_001029031.1:p.Leu529Pro
NM_001270447.1:c.1721T>C	NP_001257376.1:p.Leu574Pro
NM_001270448.1:c.1424T>C	NP_001257377.1:p.Leu475Pro
XM_006721516.2:c.1652T>C	XP_006721579.2:p.Leu551Pro
XM_011523829.1:c.1550T>C	XP_011522131.1:p.Leu517Pro
XM_011523830.1:c.1550T>C	XP_011522132.1:p.Leu517Pro
XR_934021.1:n.1755T>C
XR_934022.1:n.1661T>C
XR_934023.1:n.1661T>C
XM_006721516.3:c.1652T>C	XP_006721579.2:p.Leu551Pro
XM_011523829.2:c.1550T>C	XP_011522131.1:p.Leu517Pro
XM_011523830.2:c.1550T>C	XP_011522132.1:p.Leu517Pro
XM_024450741.1:c.1640T>C	XP_024306509.1:p.Leu547Pro
XR_934021.2:n.1707T>C
XR_934022.2:n.1613T>C
XR_934023.2:n.1613T>C
NM_000018.4:c.1652T>C MANE Select	NP_000009.1:p.Leu551Pro
NM_001033859.3:c.1586T>C	NP_001029031.1:p.Leu529Pro
NM_001270447.2:c.1721T>C	NP_001257376.1:p.Leu574Pro
NM_001270448.2:c.1424T>C	NP_001257377.1:p.Leu475Pro