Canonical Allele Identifier: CA397724542

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126964C>T (hg19) ; chr17:g.7223645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223645C>T , CM000679.2:g.7223645C>T	GRCh38
NC_000017.10:g.7126964C>T , CM000679.1:g.7126964C>T	GRCh37
NC_000017.9:g.7067688C>T	NCBI36
NG_007975.1:g.8812C>T
NG_008391.2:g.1406G>A
NG_033038.1:g.15900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1184C>T MANE Select	ENSP00000349297.5:p.Ser395Phe
ENST00000322910.9:c.*1139C>T	ENSP00000325395.5:n.*1139C>T
ENST00000350303.9:c.1118C>T	ENSP00000344152.5:p.Ser373Phe
ENST00000356839.9:c.1184C>T	ENSP00000349297.5:p.Ser395Phe
ENST00000542255.6:c.42C>T
ENST00000543245.6:c.1253C>T	ENSP00000438689.2:p.Ser418Phe
ENST00000578579.2:n.355C>T
ENST00000578711.1:n.141C>T
ENST00000578824.5:n.600C>T
ENST00000579425.5:n.208C>T
ENST00000579546.1:c.21C>T
ENST00000583858.5:c.213C>T
ENST00000585203.6:n.392C>T
NM_000018.3:c.1184C>T	NP_000009.1:p.Ser395Phe
NM_001033859.2:c.1118C>T	NP_001029031.1:p.Ser373Phe
NM_001270447.1:c.1253C>T	NP_001257376.1:p.Ser418Phe
NM_001270448.1:c.956C>T	NP_001257377.1:p.Ser319Phe
XM_006721516.2:c.1184C>T	XP_006721579.2:p.Ser395Phe
XM_011523829.1:c.1184C>T	XP_011522131.1:p.Ser395Phe
XM_011523830.1:c.1184C>T	XP_011522132.1:p.Ser395Phe
XR_934021.1:n.1291C>T
XR_934022.1:n.1291C>T
XR_934023.1:n.1291C>T
XM_006721516.3:c.1184C>T	XP_006721579.2:p.Ser395Phe
XM_011523829.2:c.1184C>T	XP_011522131.1:p.Ser395Phe
XM_011523830.2:c.1184C>T	XP_011522132.1:p.Ser395Phe
XM_024450741.1:c.1184C>T	XP_024306509.1:p.Ser395Phe
XR_934021.2:n.1243C>T
XR_934022.2:n.1243C>T
XR_934023.2:n.1243C>T
NM_000018.4:c.1184C>T MANE Select	NP_000009.1:p.Ser395Phe
NM_001033859.3:c.1118C>T	NP_001029031.1:p.Ser373Phe
NM_001270447.2:c.1253C>T	NP_001257376.1:p.Ser418Phe
NM_001270448.2:c.956C>T	NP_001257377.1:p.Ser319Phe