Canonical Allele Identifier: CA397726231

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1946C>G MANE Select	ENSP00000349297.5:p.Thr649Ser
ENST00000322910.9:c.*1901C>G	ENSP00000325395.5:n.*1901C>G
ENST00000350303.9:c.1880C>G	ENSP00000344152.5:p.Thr627Ser
ENST00000356839.9:c.1946C>G	ENSP00000349297.5:p.Thr649Ser
ENST00000542255.6:c.825C>G
ENST00000543245.6:c.2015C>G	ENSP00000438689.2:p.Thr672Ser
ENST00000578033.1:n.371C>G
ENST00000578319.5:n.527C>G
ENST00000578711.1:n.1571C>G
ENST00000578809.5:n.518C>G
ENST00000579425.5:n.1062C>G
ENST00000583848.5:c.312C>G	ENSP00000466487.1:n.312C>G
ENST00000583850.5:n.717C>G
ENST00000583858.5:c.877C>G
NM_000018.3:c.1946C>G	NP_000009.1:p.Thr649Ser
NM_001033859.2:c.1880C>G	NP_001029031.1:p.Thr627Ser
NM_001270447.1:c.2015C>G	NP_001257376.1:p.Thr672Ser
NM_001270448.1:c.1718C>G	NP_001257377.1:p.Thr573Ser
XM_006721516.2:c.1967C>G	XP_006721579.2:p.Thr656Ser
XM_011523829.1:c.1865C>G	XP_011522131.1:p.Thr622Ser
XM_011523830.1:c.1844C>G	XP_011522132.1:p.Thr615Ser
XR_934021.1:n.2049C>G
XR_934022.1:n.1955C>G
XR_934023.1:n.1976C>G
XM_006721516.3:c.1967C>G	XP_006721579.2:p.Thr656Ser
XM_011523829.2:c.1865C>G	XP_011522131.1:p.Thr622Ser
XM_011523830.2:c.1844C>G	XP_011522132.1:p.Thr615Ser
XM_024450741.1:c.1934C>G	XP_024306509.1:p.Thr645Ser
XR_934021.2:n.2001C>G
XR_934022.2:n.1907C>G
XR_934023.2:n.1928C>G
NM_000018.4:c.1946C>G MANE Select	NP_000009.1:p.Thr649Ser
NM_001033859.3:c.1880C>G	NP_001029031.1:p.Thr627Ser
NM_001270447.2:c.2015C>G	NP_001257376.1:p.Thr672Ser
NM_001270448.2:c.1718C>G	NP_001257377.1:p.Thr573Ser