Canonical Allele Identifier: CA397726043

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1856C>G MANE Select	ENSP00000349297.5:p.Ala619Gly
ENST00000322910.9:c.*1811C>G	ENSP00000325395.5:n.*1811C>G
ENST00000350303.9:c.1790C>G	ENSP00000344152.5:p.Ala597Gly
ENST00000356839.9:c.1856C>G	ENSP00000349297.5:p.Ala619Gly
ENST00000542255.6:c.735C>G
ENST00000543245.6:c.1925C>G	ENSP00000438689.2:p.Ala642Gly
ENST00000578033.1:n.281C>G
ENST00000578319.5:n.437C>G
ENST00000578711.1:n.1481C>G
ENST00000578809.5:n.428C>G
ENST00000579425.5:n.972C>G
ENST00000583848.5:c.222C>G	ENSP00000466487.1:n.222C>G
ENST00000583850.5:n.627C>G
ENST00000583858.5:c.787C>G
NM_000018.3:c.1856C>G	NP_000009.1:p.Ala619Gly
NM_001033859.2:c.1790C>G	NP_001029031.1:p.Ala597Gly
NM_001270447.1:c.1925C>G	NP_001257376.1:p.Ala642Gly
NM_001270448.1:c.1628C>G	NP_001257377.1:p.Ala543Gly
XM_006721516.2:c.1877C>G	XP_006721579.2:p.Ala626Gly
XM_011523829.1:c.1775C>G	XP_011522131.1:p.Ala592Gly
XM_011523830.1:c.1754C>G	XP_011522132.1:p.Ala585Gly
XR_934021.1:n.1959C>G
XR_934022.1:n.1865C>G
XR_934023.1:n.1886C>G
XM_006721516.3:c.1877C>G	XP_006721579.2:p.Ala626Gly
XM_011523829.2:c.1775C>G	XP_011522131.1:p.Ala592Gly
XM_011523830.2:c.1754C>G	XP_011522132.1:p.Ala585Gly
XM_024450741.1:c.1844C>G	XP_024306509.1:p.Ala615Gly
XR_934021.2:n.1911C>G
XR_934022.2:n.1817C>G
XR_934023.2:n.1838C>G
NM_000018.4:c.1856C>G MANE Select	NP_000009.1:p.Ala619Gly
NM_001033859.3:c.1790C>G	NP_001029031.1:p.Ala597Gly
NM_001270447.2:c.1925C>G	NP_001257376.1:p.Ala642Gly
NM_001270448.2:c.1628C>G	NP_001257377.1:p.Ala543Gly