Canonical Allele Identifier: CA497694382

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127870C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224551C>A , CM000679.2:g.7224551C>A	GRCh38
NC_000017.10:g.7127870C>A , CM000679.1:g.7127870C>A	GRCh37
NC_000017.9:g.7068594C>A	NCBI36
NG_007975.1:g.9718C>A
NG_008391.2:g.500G>T
NG_033038.1:g.14994G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1677C>A MANE Select	ENSP00000349297.5:p.Val559=
ENST00000322910.9:c.*1632C>A	ENSP00000325395.5:n.*1632C>A
ENST00000350303.9:c.1611C>A	ENSP00000344152.5:p.Val537=
ENST00000356839.9:c.1677C>A	ENSP00000349297.5:p.Val559=
ENST00000542255.6:c.535C>A
ENST00000543245.6:c.1746C>A	ENSP00000438689.2:p.Val582=
ENST00000578319.5:n.258C>A
ENST00000578711.1:n.1047C>A
ENST00000578809.5:n.249C>A
ENST00000579391.1:n.281C>A
ENST00000579425.5:n.793C>A
ENST00000579546.1:c.412C>A
ENST00000582450.1:n.185C>A
ENST00000583074.5:n.298C>A
ENST00000583848.5:c.63C>A	ENSP00000466487.1:p.Val21=
ENST00000583850.5:n.448C>A
ENST00000583858.5:c.608C>A
ENST00000585203.6:n.868C>A
NM_000018.3:c.1677C>A	NP_000009.1:p.Val559=
NM_001033859.2:c.1611C>A	NP_001029031.1:p.Val537=
NM_001270447.1:c.1746C>A	NP_001257376.1:p.Val582=
NM_001270448.1:c.1449C>A	NP_001257377.1:p.Val483=
XM_006721516.2:c.1677C>A	XP_006721579.2:p.Val559=
XM_011523829.1:c.1575C>A	XP_011522131.1:p.Val525=
XM_011523830.1:c.1575C>A	XP_011522132.1:p.Val525=
XR_934021.1:n.1780C>A
XR_934022.1:n.1686C>A
XR_934023.1:n.1686C>A
XM_006721516.3:c.1677C>A	XP_006721579.2:p.Val559=
XM_011523829.2:c.1575C>A	XP_011522131.1:p.Val525=
XM_011523830.2:c.1575C>A	XP_011522132.1:p.Val525=
XM_024450741.1:c.1665C>A	XP_024306509.1:p.Val555=
XR_934021.2:n.1732C>A
XR_934022.2:n.1638C>A
XR_934023.2:n.1638C>A
NM_000018.4:c.1677C>A MANE Select	NP_000009.1:p.Val559=
NM_001033859.3:c.1611C>A	NP_001029031.1:p.Val537=
NM_001270447.2:c.1746C>A	NP_001257376.1:p.Val582=
NM_001270448.2:c.1449C>A	NP_001257377.1:p.Val483=