Canonical Allele Identifier: CA397725705

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127991A>C (hg19) ; chr17:g.7224672A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224672A>C , CM000679.2:g.7224672A>C	GRCh38
NC_000017.10:g.7127991A>C , CM000679.1:g.7127991A>C	GRCh37
NC_000017.9:g.7068715A>C	NCBI36
NG_007975.1:g.9839A>C
NG_008391.2:g.379T>G
NG_033038.1:g.14873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1709A>C MANE Select	ENSP00000349297.5:p.Asp570Ala
ENST00000322910.9:c.*1664A>C	ENSP00000325395.5:n.*1664A>C
ENST00000350303.9:c.1643A>C	ENSP00000344152.5:p.Asp548Ala
ENST00000356839.9:c.1709A>C	ENSP00000349297.5:p.Asp570Ala
ENST00000542255.6:c.537-43A>C
ENST00000543245.6:c.1778A>C	ENSP00000438689.2:p.Asp593Ala
ENST00000578033.1:n.40A>C
ENST00000578319.5:n.290A>C
ENST00000578711.1:n.1168A>C
ENST00000578809.5:n.281A>C
ENST00000579425.5:n.825A>C
ENST00000579546.1:c.444A>C
ENST00000583074.5:n.300-43A>C
ENST00000583848.5:c.75A>C	ENSP00000466487.1:p.Arg25Ser
ENST00000583850.5:n.480A>C
ENST00000583858.5:c.640A>C
ENST00000585203.6:n.900A>C
NM_000018.3:c.1709A>C	NP_000009.1:p.Asp570Ala
NM_001033859.2:c.1643A>C	NP_001029031.1:p.Asp548Ala
NM_001270447.1:c.1778A>C	NP_001257376.1:p.Asp593Ala
NM_001270448.1:c.1481A>C	NP_001257377.1:p.Asp494Ala
XM_006721516.2:c.1679-43A>C	XP_006721579.2:n.1679-43A>C
XM_011523829.1:c.1577-43A>C	XP_011522131.1:n.1577-43A>C
XM_011523830.1:c.1607A>C	XP_011522132.1:p.Asp536Ala
XR_934021.1:n.1812A>C
XR_934022.1:n.1718A>C
XR_934023.1:n.1688-43A>C
XM_006721516.3:c.1679-43A>C	XP_006721579.2:n.1679-43A>C
XM_011523829.2:c.1577-43A>C	XP_011522131.1:n.1577-43A>C
XM_011523830.2:c.1607A>C	XP_011522132.1:p.Asp536Ala
XM_024450741.1:c.1697A>C	XP_024306509.1:p.Asp566Ala
XR_934021.2:n.1764A>C
XR_934022.2:n.1670A>C
XR_934023.2:n.1640-43A>C
NM_000018.4:c.1709A>C MANE Select	NP_000009.1:p.Asp570Ala
NM_001033859.3:c.1643A>C	NP_001029031.1:p.Asp548Ala
NM_001270447.2:c.1778A>C	NP_001257376.1:p.Asp593Ala
NM_001270448.2:c.1481A>C	NP_001257377.1:p.Asp494Ala