Canonical Allele Identifier: CA397726042

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128304C>A (hg19) ; chr17:g.7224985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224985C>A , CM000679.2:g.7224985C>A	GRCh38
NC_000017.10:g.7128304C>A , CM000679.1:g.7128304C>A	GRCh37
NC_000017.9:g.7069028C>A	NCBI36
NG_007975.1:g.10152C>A
NG_008391.2:g.66G>T
NG_033038.1:g.14560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1856C>A MANE Select	ENSP00000349297.5:p.Ala619Asp
ENST00000322910.9:c.*1811C>A	ENSP00000325395.5:n.*1811C>A
ENST00000350303.9:c.1790C>A	ENSP00000344152.5:p.Ala597Asp
ENST00000356839.9:c.1856C>A	ENSP00000349297.5:p.Ala619Asp
ENST00000542255.6:c.735C>A
ENST00000543245.6:c.1925C>A	ENSP00000438689.2:p.Ala642Asp
ENST00000578033.1:n.281C>A
ENST00000578319.5:n.437C>A
ENST00000578711.1:n.1481C>A
ENST00000578809.5:n.428C>A
ENST00000579425.5:n.972C>A
ENST00000583848.5:c.222C>A	ENSP00000466487.1:n.222C>A
ENST00000583850.5:n.627C>A
ENST00000583858.5:c.787C>A
NM_000018.3:c.1856C>A	NP_000009.1:p.Ala619Asp
NM_001033859.2:c.1790C>A	NP_001029031.1:p.Ala597Asp
NM_001270447.1:c.1925C>A	NP_001257376.1:p.Ala642Asp
NM_001270448.1:c.1628C>A	NP_001257377.1:p.Ala543Asp
XM_006721516.2:c.1877C>A	XP_006721579.2:p.Ala626Asp
XM_011523829.1:c.1775C>A	XP_011522131.1:p.Ala592Asp
XM_011523830.1:c.1754C>A	XP_011522132.1:p.Ala585Asp
XR_934021.1:n.1959C>A
XR_934022.1:n.1865C>A
XR_934023.1:n.1886C>A
XM_006721516.3:c.1877C>A	XP_006721579.2:p.Ala626Asp
XM_011523829.2:c.1775C>A	XP_011522131.1:p.Ala592Asp
XM_011523830.2:c.1754C>A	XP_011522132.1:p.Ala585Asp
XM_024450741.1:c.1844C>A	XP_024306509.1:p.Ala615Asp
XR_934021.2:n.1911C>A
XR_934022.2:n.1817C>A
XR_934023.2:n.1838C>A
NM_000018.4:c.1856C>A MANE Select	NP_000009.1:p.Ala619Asp
NM_001033859.3:c.1790C>A	NP_001029031.1:p.Ala597Asp
NM_001270447.2:c.1925C>A	NP_001257376.1:p.Ala642Asp
NM_001270448.2:c.1628C>A	NP_001257377.1:p.Ala543Asp