Canonical Allele Identifier: CA497694162

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127355T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224036T>C , CM000679.2:g.7224036T>C	GRCh38
NC_000017.10:g.7127355T>C , CM000679.1:g.7127355T>C	GRCh37
NC_000017.9:g.7068079T>C	NCBI36
NG_007975.1:g.9203T>C
NG_008391.2:g.1015A>G
NG_033038.1:g.15509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1401T>C MANE Select	ENSP00000349297.5:p.Ile467=
ENST00000322910.9:c.*1356T>C	ENSP00000325395.5:n.*1356T>C
ENST00000350303.9:c.1335T>C	ENSP00000344152.5:p.Ile445=
ENST00000356839.9:c.1401T>C	ENSP00000349297.5:p.Ile467=
ENST00000542255.6:c.259T>C
ENST00000543245.6:c.1470T>C	ENSP00000438689.2:p.Ile490=
ENST00000578711.1:n.532T>C
ENST00000579425.5:n.517T>C
ENST00000579546.1:c.238T>C
ENST00000579894.5:n.112T>C
ENST00000583074.5:n.120T>C
ENST00000583850.5:n.176T>C
ENST00000583858.5:c.430T>C
ENST00000585203.6:n.592T>C
NM_000018.3:c.1401T>C	NP_000009.1:p.Ile467=
NM_001033859.2:c.1335T>C	NP_001029031.1:p.Ile445=
NM_001270447.1:c.1470T>C	NP_001257376.1:p.Ile490=
NM_001270448.1:c.1173T>C	NP_001257377.1:p.Ile391=
XM_006721516.2:c.1401T>C	XP_006721579.2:p.Ile467=
XM_011523829.1:c.1401T>C	XP_011522131.1:p.Ile467=
XM_011523830.1:c.1401T>C	XP_011522132.1:p.Ile467=
XR_934021.1:n.1508T>C
XR_934022.1:n.1508T>C
XR_934023.1:n.1508T>C
XM_006721516.3:c.1401T>C	XP_006721579.2:p.Ile467=
XM_011523829.2:c.1401T>C	XP_011522131.1:p.Ile467=
XM_011523830.2:c.1401T>C	XP_011522132.1:p.Ile467=
XM_024450741.1:c.1401T>C	XP_024306509.1:p.Ile467=
XR_934021.2:n.1460T>C
XR_934022.2:n.1460T>C
XR_934023.2:n.1460T>C
NM_000018.4:c.1401T>C MANE Select	NP_000009.1:p.Ile467=
NM_001033859.3:c.1335T>C	NP_001029031.1:p.Ile445=
NM_001270447.2:c.1470T>C	NP_001257376.1:p.Ile490=
NM_001270448.2:c.1173T>C	NP_001257377.1:p.Ile391=