Canonical Allele Identifier: CA397725597

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127857A>C (hg19) ; chr17:g.7224538A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224538A>C , CM000679.2:g.7224538A>C	GRCh38
NC_000017.10:g.7127857A>C , CM000679.1:g.7127857A>C	GRCh37
NC_000017.9:g.7068581A>C	NCBI36
NG_007975.1:g.9705A>C
NG_008391.2:g.513T>G
NG_033038.1:g.15007T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1664A>C MANE Select	ENSP00000349297.5:p.Lys555Thr
ENST00000322910.9:c.*1619A>C	ENSP00000325395.5:n.*1619A>C
ENST00000350303.9:c.1598A>C	ENSP00000344152.5:p.Lys533Thr
ENST00000356839.9:c.1664A>C	ENSP00000349297.5:p.Lys555Thr
ENST00000542255.6:c.522A>C
ENST00000543245.6:c.1733A>C	ENSP00000438689.2:p.Lys578Thr
ENST00000578319.5:n.245A>C
ENST00000578711.1:n.1034A>C
ENST00000578809.5:n.236A>C
ENST00000579391.1:n.268A>C
ENST00000579425.5:n.780A>C
ENST00000579546.1:c.399A>C
ENST00000582450.1:n.172A>C
ENST00000583074.5:n.285A>C
ENST00000583848.5:c.50A>C	ENSP00000466487.1:p.Lys17Thr
ENST00000583850.5:n.435A>C
ENST00000583858.5:c.595A>C
ENST00000585203.6:n.855A>C
NM_000018.3:c.1664A>C	NP_000009.1:p.Lys555Thr
NM_001033859.2:c.1598A>C	NP_001029031.1:p.Lys533Thr
NM_001270447.1:c.1733A>C	NP_001257376.1:p.Lys578Thr
NM_001270448.1:c.1436A>C	NP_001257377.1:p.Lys479Thr
XM_006721516.2:c.1664A>C	XP_006721579.2:p.Lys555Thr
XM_011523829.1:c.1562A>C	XP_011522131.1:p.Lys521Thr
XM_011523830.1:c.1562A>C	XP_011522132.1:p.Lys521Thr
XR_934021.1:n.1767A>C
XR_934022.1:n.1673A>C
XR_934023.1:n.1673A>C
XM_006721516.3:c.1664A>C	XP_006721579.2:p.Lys555Thr
XM_011523829.2:c.1562A>C	XP_011522131.1:p.Lys521Thr
XM_011523830.2:c.1562A>C	XP_011522132.1:p.Lys521Thr
XM_024450741.1:c.1652A>C	XP_024306509.1:p.Lys551Thr
XR_934021.2:n.1719A>C
XR_934022.2:n.1625A>C
XR_934023.2:n.1625A>C
NM_000018.4:c.1664A>C MANE Select	NP_000009.1:p.Lys555Thr
NM_001033859.3:c.1598A>C	NP_001029031.1:p.Lys533Thr
NM_001270447.2:c.1733A>C	NP_001257376.1:p.Lys578Thr
NM_001270448.2:c.1436A>C	NP_001257377.1:p.Lys479Thr