Canonical Allele Identifier: CA397725564

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127842A>C (hg19) ; chr17:g.7224523A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224523A>C , CM000679.2:g.7224523A>C	GRCh38
NC_000017.10:g.7127842A>C , CM000679.1:g.7127842A>C	GRCh37
NC_000017.9:g.7068566A>C	NCBI36
NG_007975.1:g.9690A>C
NG_008391.2:g.528T>G
NG_033038.1:g.15022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1649A>C MANE Select	ENSP00000349297.5:p.Lys550Thr
ENST00000322910.9:c.*1604A>C	ENSP00000325395.5:n.*1604A>C
ENST00000350303.9:c.1583A>C	ENSP00000344152.5:p.Lys528Thr
ENST00000356839.9:c.1649A>C	ENSP00000349297.5:p.Lys550Thr
ENST00000542255.6:c.507A>C
ENST00000543245.6:c.1718A>C	ENSP00000438689.2:p.Lys573Thr
ENST00000578319.5:n.230A>C
ENST00000578711.1:n.1019A>C
ENST00000578809.5:n.221A>C
ENST00000579391.1:n.253A>C
ENST00000579425.5:n.765A>C
ENST00000579546.1:c.384A>C
ENST00000582450.1:n.157A>C
ENST00000583074.5:n.270A>C
ENST00000583848.5:c.35A>C	ENSP00000466487.1:p.Lys12Thr
ENST00000583850.5:n.420A>C
ENST00000583858.5:c.580A>C
ENST00000585203.6:n.840A>C
NM_000018.3:c.1649A>C	NP_000009.1:p.Lys550Thr
NM_001033859.2:c.1583A>C	NP_001029031.1:p.Lys528Thr
NM_001270447.1:c.1718A>C	NP_001257376.1:p.Lys573Thr
NM_001270448.1:c.1421A>C	NP_001257377.1:p.Lys474Thr
XM_006721516.2:c.1649A>C	XP_006721579.2:p.Lys550Thr
XM_011523829.1:c.1547A>C	XP_011522131.1:p.Lys516Thr
XM_011523830.1:c.1547A>C	XP_011522132.1:p.Lys516Thr
XR_934021.1:n.1752A>C
XR_934022.1:n.1658A>C
XR_934023.1:n.1658A>C
XM_006721516.3:c.1649A>C	XP_006721579.2:p.Lys550Thr
XM_011523829.2:c.1547A>C	XP_011522131.1:p.Lys516Thr
XM_011523830.2:c.1547A>C	XP_011522132.1:p.Lys516Thr
XM_024450741.1:c.1637A>C	XP_024306509.1:p.Lys546Thr
XR_934021.2:n.1704A>C
XR_934022.2:n.1610A>C
XR_934023.2:n.1610A>C
NM_000018.4:c.1649A>C MANE Select	NP_000009.1:p.Lys550Thr
NM_001033859.3:c.1583A>C	NP_001029031.1:p.Lys528Thr
NM_001270447.2:c.1718A>C	NP_001257376.1:p.Lys573Thr
NM_001270448.2:c.1421A>C	NP_001257377.1:p.Lys474Thr