Canonical Allele Identifier: CA397725939

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128187A>G (hg19) ; chr17:g.7224868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224868A>G , CM000679.2:g.7224868A>G	GRCh38
NC_000017.10:g.7128187A>G , CM000679.1:g.7128187A>G	GRCh37
NC_000017.9:g.7068911A>G	NCBI36
NG_007975.1:g.10035A>G
NG_008391.2:g.183T>C
NG_033038.1:g.14677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1811A>G MANE Select	ENSP00000349297.5:p.Asp604Gly
ENST00000322910.9:c.*1766A>G	ENSP00000325395.5:n.*1766A>G
ENST00000350303.9:c.1745A>G	ENSP00000344152.5:p.Asp582Gly
ENST00000356839.9:c.1811A>G	ENSP00000349297.5:p.Asp604Gly
ENST00000542255.6:c.690A>G
ENST00000543245.6:c.1880A>G	ENSP00000438689.2:p.Asp627Gly
ENST00000578033.1:n.236A>G
ENST00000578319.5:n.392A>G
ENST00000578711.1:n.1364A>G
ENST00000578809.5:n.383A>G
ENST00000579425.5:n.927A>G
ENST00000579546.1:c.546A>G
ENST00000583848.5:c.177A>G	ENSP00000466487.1:n.177A>G
ENST00000583850.5:n.582A>G
ENST00000583858.5:c.742A>G
NM_000018.3:c.1811A>G	NP_000009.1:p.Asp604Gly
NM_001033859.2:c.1745A>G	NP_001029031.1:p.Asp582Gly
NM_001270447.1:c.1880A>G	NP_001257376.1:p.Asp627Gly
NM_001270448.1:c.1583A>G	NP_001257377.1:p.Asp528Gly
XM_006721516.2:c.1832A>G	XP_006721579.2:p.Asp611Gly
XM_011523829.1:c.1730A>G	XP_011522131.1:p.Asp577Gly
XM_011523830.1:c.1709A>G	XP_011522132.1:p.Asp570Gly
XR_934021.1:n.1914A>G
XR_934022.1:n.1820A>G
XR_934023.1:n.1841A>G
XM_006721516.3:c.1832A>G	XP_006721579.2:p.Asp611Gly
XM_011523829.2:c.1730A>G	XP_011522131.1:p.Asp577Gly
XM_011523830.2:c.1709A>G	XP_011522132.1:p.Asp570Gly
XM_024450741.1:c.1799A>G	XP_024306509.1:p.Asp600Gly
XR_934021.2:n.1866A>G
XR_934022.2:n.1772A>G
XR_934023.2:n.1793A>G
NM_000018.4:c.1811A>G MANE Select	NP_000009.1:p.Asp604Gly
NM_001033859.3:c.1745A>G	NP_001029031.1:p.Asp582Gly
NM_001270447.2:c.1880A>G	NP_001257376.1:p.Asp627Gly
NM_001270448.2:c.1583A>G	NP_001257377.1:p.Asp528Gly