Canonical Allele Identifier: CA397725600

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127858G>C (hg19) ; chr17:g.7224539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224539G>C , CM000679.2:g.7224539G>C	GRCh38
NC_000017.10:g.7127858G>C , CM000679.1:g.7127858G>C	GRCh37
NC_000017.9:g.7068582G>C	NCBI36
NG_007975.1:g.9706G>C
NG_008391.2:g.512C>G
NG_033038.1:g.15006C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1665G>C MANE Select	ENSP00000349297.5:p.Lys555Asn
ENST00000322910.9:c.*1620G>C	ENSP00000325395.5:n.*1620G>C
ENST00000350303.9:c.1599G>C	ENSP00000344152.5:p.Lys533Asn
ENST00000356839.9:c.1665G>C	ENSP00000349297.5:p.Lys555Asn
ENST00000542255.6:c.523G>C
ENST00000543245.6:c.1734G>C	ENSP00000438689.2:p.Lys578Asn
ENST00000578319.5:n.246G>C
ENST00000578711.1:n.1035G>C
ENST00000578809.5:n.237G>C
ENST00000579391.1:n.269G>C
ENST00000579425.5:n.781G>C
ENST00000579546.1:c.400G>C
ENST00000582450.1:n.173G>C
ENST00000583074.5:n.286G>C
ENST00000583848.5:c.51G>C	ENSP00000466487.1:p.Lys17Asn
ENST00000583850.5:n.436G>C
ENST00000583858.5:c.596G>C
ENST00000585203.6:n.856G>C
NM_000018.3:c.1665G>C	NP_000009.1:p.Lys555Asn
NM_001033859.2:c.1599G>C	NP_001029031.1:p.Lys533Asn
NM_001270447.1:c.1734G>C	NP_001257376.1:p.Lys578Asn
NM_001270448.1:c.1437G>C	NP_001257377.1:p.Lys479Asn
XM_006721516.2:c.1665G>C	XP_006721579.2:p.Lys555Asn
XM_011523829.1:c.1563G>C	XP_011522131.1:p.Lys521Asn
XM_011523830.1:c.1563G>C	XP_011522132.1:p.Lys521Asn
XR_934021.1:n.1768G>C
XR_934022.1:n.1674G>C
XR_934023.1:n.1674G>C
XM_006721516.3:c.1665G>C	XP_006721579.2:p.Lys555Asn
XM_011523829.2:c.1563G>C	XP_011522131.1:p.Lys521Asn
XM_011523830.2:c.1563G>C	XP_011522132.1:p.Lys521Asn
XM_024450741.1:c.1653G>C	XP_024306509.1:p.Lys551Asn
XR_934021.2:n.1720G>C
XR_934022.2:n.1626G>C
XR_934023.2:n.1626G>C
NM_000018.4:c.1665G>C MANE Select	NP_000009.1:p.Lys555Asn
NM_001033859.3:c.1599G>C	NP_001029031.1:p.Lys533Asn
NM_001270447.2:c.1734G>C	NP_001257376.1:p.Lys578Asn
NM_001270448.2:c.1437G>C	NP_001257377.1:p.Lys479Asn