Canonical Allele Identifier: CA397726166

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128360T>G (hg19) ; chr17:g.7225041T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225041T>G , CM000679.2:g.7225041T>G	GRCh38
NC_000017.10:g.7128360T>G , CM000679.1:g.7128360T>G	GRCh37
NC_000017.9:g.7069084T>G	NCBI36
NG_007975.1:g.10208T>G
NG_008391.2:g.10A>C
NG_033038.1:g.14504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1912T>G MANE Select	ENSP00000349297.5:p.Ser638Ala
ENST00000322910.9:c.*1867T>G	ENSP00000325395.5:n.*1867T>G
ENST00000350303.9:c.1846T>G	ENSP00000344152.5:p.Ser616Ala
ENST00000356839.9:c.1912T>G	ENSP00000349297.5:p.Ser638Ala
ENST00000542255.6:c.791T>G
ENST00000543245.6:c.1981T>G	ENSP00000438689.2:p.Ser661Ala
ENST00000578033.1:n.337T>G
ENST00000578319.5:n.493T>G
ENST00000578711.1:n.1537T>G
ENST00000578809.5:n.484T>G
ENST00000579425.5:n.1028T>G
ENST00000583848.5:c.278T>G	ENSP00000466487.1:n.278T>G
ENST00000583850.5:n.683T>G
ENST00000583858.5:c.843T>G
NM_000018.3:c.1912T>G	NP_000009.1:p.Ser638Ala
NM_001033859.2:c.1846T>G	NP_001029031.1:p.Ser616Ala
NM_001270447.1:c.1981T>G	NP_001257376.1:p.Ser661Ala
NM_001270448.1:c.1684T>G	NP_001257377.1:p.Ser562Ala
XM_006721516.2:c.1933T>G	XP_006721579.2:p.Ser645Ala
XM_011523829.1:c.1831T>G	XP_011522131.1:p.Ser611Ala
XM_011523830.1:c.1810T>G	XP_011522132.1:p.Ser604Ala
XR_934021.1:n.2015T>G
XR_934022.1:n.1921T>G
XR_934023.1:n.1942T>G
XM_006721516.3:c.1933T>G	XP_006721579.2:p.Ser645Ala
XM_011523829.2:c.1831T>G	XP_011522131.1:p.Ser611Ala
XM_011523830.2:c.1810T>G	XP_011522132.1:p.Ser604Ala
XM_024450741.1:c.1900T>G	XP_024306509.1:p.Ser634Ala
XR_934021.2:n.1967T>G
XR_934022.2:n.1873T>G
XR_934023.2:n.1894T>G
NM_000018.4:c.1912T>G MANE Select	NP_000009.1:p.Ser638Ala
NM_001033859.3:c.1846T>G	NP_001029031.1:p.Ser616Ala
NM_001270447.2:c.1981T>G	NP_001257376.1:p.Ser661Ala
NM_001270448.2:c.1684T>G	NP_001257377.1:p.Ser562Ala