Canonical Allele Identifier: CA397725567

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127843G>C (hg19) ; chr17:g.7224524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224524G>C , CM000679.2:g.7224524G>C	GRCh38
NC_000017.10:g.7127843G>C , CM000679.1:g.7127843G>C	GRCh37
NC_000017.9:g.7068567G>C	NCBI36
NG_007975.1:g.9691G>C
NG_008391.2:g.527C>G
NG_033038.1:g.15021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1650G>C MANE Select	ENSP00000349297.5:p.Lys550Asn
ENST00000322910.9:c.*1605G>C	ENSP00000325395.5:n.*1605G>C
ENST00000350303.9:c.1584G>C	ENSP00000344152.5:p.Lys528Asn
ENST00000356839.9:c.1650G>C	ENSP00000349297.5:p.Lys550Asn
ENST00000542255.6:c.508G>C
ENST00000543245.6:c.1719G>C	ENSP00000438689.2:p.Lys573Asn
ENST00000578319.5:n.231G>C
ENST00000578711.1:n.1020G>C
ENST00000578809.5:n.222G>C
ENST00000579391.1:n.254G>C
ENST00000579425.5:n.766G>C
ENST00000579546.1:c.385G>C
ENST00000582450.1:n.158G>C
ENST00000583074.5:n.271G>C
ENST00000583848.5:c.36G>C	ENSP00000466487.1:p.Lys12Asn
ENST00000583850.5:n.421G>C
ENST00000583858.5:c.581G>C
ENST00000585203.6:n.841G>C
NM_000018.3:c.1650G>C	NP_000009.1:p.Lys550Asn
NM_001033859.2:c.1584G>C	NP_001029031.1:p.Lys528Asn
NM_001270447.1:c.1719G>C	NP_001257376.1:p.Lys573Asn
NM_001270448.1:c.1422G>C	NP_001257377.1:p.Lys474Asn
XM_006721516.2:c.1650G>C	XP_006721579.2:p.Lys550Asn
XM_011523829.1:c.1548G>C	XP_011522131.1:p.Lys516Asn
XM_011523830.1:c.1548G>C	XP_011522132.1:p.Lys516Asn
XR_934021.1:n.1753G>C
XR_934022.1:n.1659G>C
XR_934023.1:n.1659G>C
XM_006721516.3:c.1650G>C	XP_006721579.2:p.Lys550Asn
XM_011523829.2:c.1548G>C	XP_011522131.1:p.Lys516Asn
XM_011523830.2:c.1548G>C	XP_011522132.1:p.Lys516Asn
XM_024450741.1:c.1638G>C	XP_024306509.1:p.Lys546Asn
XR_934021.2:n.1705G>C
XR_934022.2:n.1611G>C
XR_934023.2:n.1611G>C
NM_000018.4:c.1650G>C MANE Select	NP_000009.1:p.Lys550Asn
NM_001033859.3:c.1584G>C	NP_001029031.1:p.Lys528Asn
NM_001270447.2:c.1719G>C	NP_001257376.1:p.Lys573Asn
NM_001270448.2:c.1422G>C	NP_001257377.1:p.Lys474Asn