Canonical Allele Identifier: CA397725623

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127868G>C (hg19) ; chr17:g.7224549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224549G>C , CM000679.2:g.7224549G>C	GRCh38
NC_000017.10:g.7127868G>C , CM000679.1:g.7127868G>C	GRCh37
NC_000017.9:g.7068592G>C	NCBI36
NG_007975.1:g.9716G>C
NG_008391.2:g.502C>G
NG_033038.1:g.14996C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1675G>C MANE Select	ENSP00000349297.5:p.Val559Leu
ENST00000322910.9:c.*1630G>C	ENSP00000325395.5:n.*1630G>C
ENST00000350303.9:c.1609G>C	ENSP00000344152.5:p.Val537Leu
ENST00000356839.9:c.1675G>C	ENSP00000349297.5:p.Val559Leu
ENST00000542255.6:c.533G>C
ENST00000543245.6:c.1744G>C	ENSP00000438689.2:p.Val582Leu
ENST00000578319.5:n.256G>C
ENST00000578711.1:n.1045G>C
ENST00000578809.5:n.247G>C
ENST00000579391.1:n.279G>C
ENST00000579425.5:n.791G>C
ENST00000579546.1:c.410G>C
ENST00000582450.1:n.183G>C
ENST00000583074.5:n.296G>C
ENST00000583848.5:c.61G>C	ENSP00000466487.1:p.Val21Leu
ENST00000583850.5:n.446G>C
ENST00000583858.5:c.606G>C
ENST00000585203.6:n.866G>C
NM_000018.3:c.1675G>C	NP_000009.1:p.Val559Leu
NM_001033859.2:c.1609G>C	NP_001029031.1:p.Val537Leu
NM_001270447.1:c.1744G>C	NP_001257376.1:p.Val582Leu
NM_001270448.1:c.1447G>C	NP_001257377.1:p.Val483Leu
XM_006721516.2:c.1675G>C	XP_006721579.2:p.Val559Leu
XM_011523829.1:c.1573G>C	XP_011522131.1:p.Val525Leu
XM_011523830.1:c.1573G>C	XP_011522132.1:p.Val525Leu
XR_934021.1:n.1778G>C
XR_934022.1:n.1684G>C
XR_934023.1:n.1684G>C
XM_006721516.3:c.1675G>C	XP_006721579.2:p.Val559Leu
XM_011523829.2:c.1573G>C	XP_011522131.1:p.Val525Leu
XM_011523830.2:c.1573G>C	XP_011522132.1:p.Val525Leu
XM_024450741.1:c.1663G>C	XP_024306509.1:p.Val555Leu
XR_934021.2:n.1730G>C
XR_934022.2:n.1636G>C
XR_934023.2:n.1636G>C
NM_000018.4:c.1675G>C MANE Select	NP_000009.1:p.Val559Leu
NM_001033859.3:c.1609G>C	NP_001029031.1:p.Val537Leu
NM_001270447.2:c.1744G>C	NP_001257376.1:p.Val582Leu
NM_001270448.2:c.1447G>C	NP_001257377.1:p.Val483Leu