Canonical Allele Identifier: CA397723157

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124936T>C (hg19) ; chr17:g.7221617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221617T>C , CM000679.2:g.7221617T>C	GRCh38
NC_000017.10:g.7124936T>C , CM000679.1:g.7124936T>C	GRCh37
NC_000017.9:g.7065660T>C	NCBI36
NG_007975.1:g.6784T>C
NG_008391.2:g.3434A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.557T>C MANE Select	ENSP00000349297.5:p.Phe186Ser
ENST00000322910.9:c.*512T>C	ENSP00000325395.5:n.*512T>C
ENST00000350303.9:c.491T>C	ENSP00000344152.5:p.Phe164Ser
ENST00000356839.9:c.557T>C	ENSP00000349297.5:p.Phe186Ser
ENST00000543245.6:c.626T>C	ENSP00000438689.2:p.Phe209Ser
ENST00000577191.5:n.634T>C
ENST00000577433.5:n.765T>C
ENST00000577857.5:n.373T>C
ENST00000579286.5:n.738T>C
ENST00000579886.2:c.395T>C	ENSP00000463246.1:p.Phe132Ser
ENST00000580365.1:n.288T>C
ENST00000581378.5:c.275T>C
ENST00000581562.5:n.525-335T>C
ENST00000582166.1:n.538T>C
ENST00000583312.5:c.557T>C	ENSP00000467920.1:p.Phe186Ser
ENST00000583760.1:n.339T>C
NM_000018.3:c.557T>C	NP_000009.1:p.Phe186Ser
NM_001033859.2:c.491T>C	NP_001029031.1:p.Phe164Ser
NM_001270447.1:c.626T>C	NP_001257376.1:p.Phe209Ser
NM_001270448.1:c.329T>C	NP_001257377.1:p.Phe110Ser
XM_006721516.2:c.557T>C	XP_006721579.2:p.Phe186Ser
XM_011523829.1:c.557T>C	XP_011522131.1:p.Phe186Ser
XM_011523830.1:c.557T>C	XP_011522132.1:p.Phe186Ser
XR_934021.1:n.664T>C
XR_934022.1:n.664T>C
XR_934023.1:n.664T>C
XM_006721516.3:c.557T>C	XP_006721579.2:p.Phe186Ser
XM_011523829.2:c.557T>C	XP_011522131.1:p.Phe186Ser
XM_011523830.2:c.557T>C	XP_011522132.1:p.Phe186Ser
XM_024450741.1:c.557T>C	XP_024306509.1:p.Phe186Ser
XR_934021.2:n.616T>C
XR_934022.2:n.616T>C
XR_934023.2:n.616T>C
NM_000018.4:c.557T>C MANE Select	NP_000009.1:p.Phe186Ser
NM_001033859.3:c.491T>C	NP_001029031.1:p.Phe164Ser
NM_001270447.2:c.626T>C	NP_001257376.1:p.Phe209Ser
NM_001270448.2:c.329T>C	NP_001257377.1:p.Phe110Ser