Canonical Allele Identifier: CA397726232

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128394C>T (hg19) ; chr17:g.7225075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225075C>T , CM000679.2:g.7225075C>T	GRCh38
NC_000017.10:g.7128394C>T , CM000679.1:g.7128394C>T	GRCh37
NC_000017.9:g.7069118C>T	NCBI36
NG_007975.1:g.10242C>T
NG_033038.1:g.14470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1946C>T MANE Select	ENSP00000349297.5:p.Thr649Ile
ENST00000322910.9:c.*1901C>T	ENSP00000325395.5:n.*1901C>T
ENST00000350303.9:c.1880C>T	ENSP00000344152.5:p.Thr627Ile
ENST00000356839.9:c.1946C>T	ENSP00000349297.5:p.Thr649Ile
ENST00000542255.6:c.825C>T
ENST00000543245.6:c.2015C>T	ENSP00000438689.2:p.Thr672Ile
ENST00000578033.1:n.371C>T
ENST00000578319.5:n.527C>T
ENST00000578711.1:n.1571C>T
ENST00000578809.5:n.518C>T
ENST00000579425.5:n.1062C>T
ENST00000583848.5:c.312C>T	ENSP00000466487.1:n.312C>T
ENST00000583850.5:n.717C>T
ENST00000583858.5:c.877C>T
NM_000018.3:c.1946C>T	NP_000009.1:p.Thr649Ile
NM_001033859.2:c.1880C>T	NP_001029031.1:p.Thr627Ile
NM_001270447.1:c.2015C>T	NP_001257376.1:p.Thr672Ile
NM_001270448.1:c.1718C>T	NP_001257377.1:p.Thr573Ile
XM_006721516.2:c.1967C>T	XP_006721579.2:p.Thr656Ile
XM_011523829.1:c.1865C>T	XP_011522131.1:p.Thr622Ile
XM_011523830.1:c.1844C>T	XP_011522132.1:p.Thr615Ile
XR_934021.1:n.2049C>T
XR_934022.1:n.1955C>T
XR_934023.1:n.1976C>T
XM_006721516.3:c.1967C>T	XP_006721579.2:p.Thr656Ile
XM_011523829.2:c.1865C>T	XP_011522131.1:p.Thr622Ile
XM_011523830.2:c.1844C>T	XP_011522132.1:p.Thr615Ile
XM_024450741.1:c.1934C>T	XP_024306509.1:p.Thr645Ile
XR_934021.2:n.2001C>T
XR_934022.2:n.1907C>T
XR_934023.2:n.1928C>T
NM_000018.4:c.1946C>T MANE Select	NP_000009.1:p.Thr649Ile
NM_001033859.3:c.1880C>T	NP_001029031.1:p.Thr627Ile
NM_001270447.2:c.2015C>T	NP_001257376.1:p.Thr672Ile
NM_001270448.2:c.1718C>T	NP_001257377.1:p.Thr573Ile