Canonical Allele Identifier: CA287441364

Gene: ACADVL

Linked Data

• dbSNP Id: rs13383
• MyVariant Identifiers: chr17:g.7128316C>T (hg19) ; chr17:g.7224997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224997C>T , CM000679.2:g.7224997C>T	GRCh38
NC_000017.10:g.7128316C>T , CM000679.1:g.7128316C>T	GRCh37
NC_000017.9:g.7069040C>T	NCBI36
NG_007975.1:g.10164C>T
NG_008391.2:g.54G>A
NG_033038.1:g.14548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1868C>T MANE Select	ENSP00000349297.5:p.Ser623Phe
ENST00000322910.9:c.*1823C>T	ENSP00000325395.5:n.*1823C>T
ENST00000350303.9:c.1802C>T	ENSP00000344152.5:p.Ser601Phe
ENST00000356839.9:c.1868C>T	ENSP00000349297.5:p.Ser623Phe
ENST00000542255.6:c.747C>T
ENST00000543245.6:c.1937C>T	ENSP00000438689.2:p.Ser646Phe
ENST00000578033.1:n.293C>T
ENST00000578319.5:n.449C>T
ENST00000578711.1:n.1493C>T
ENST00000578809.5:n.440C>T
ENST00000579425.5:n.984C>T
ENST00000583848.5:c.234C>T	ENSP00000466487.1:n.234C>T
ENST00000583850.5:n.639C>T
ENST00000583858.5:c.799C>T
NM_000018.3:c.1868C>T	NP_000009.1:p.Ser623Phe
NM_001033859.2:c.1802C>T	NP_001029031.1:p.Ser601Phe
NM_001270447.1:c.1937C>T	NP_001257376.1:p.Ser646Phe
NM_001270448.1:c.1640C>T	NP_001257377.1:p.Ser547Phe
XM_006721516.2:c.1889C>T	XP_006721579.2:p.Ser630Phe
XM_011523829.1:c.1787C>T	XP_011522131.1:p.Ser596Phe
XM_011523830.1:c.1766C>T	XP_011522132.1:p.Ser589Phe
XR_934021.1:n.1971C>T
XR_934022.1:n.1877C>T
XR_934023.1:n.1898C>T
XM_006721516.3:c.1889C>T	XP_006721579.2:p.Ser630Phe
XM_011523829.2:c.1787C>T	XP_011522131.1:p.Ser596Phe
XM_011523830.2:c.1766C>T	XP_011522132.1:p.Ser589Phe
XM_024450741.1:c.1856C>T	XP_024306509.1:p.Ser619Phe
XR_934021.2:n.1923C>T
XR_934022.2:n.1829C>T
XR_934023.2:n.1850C>T
NM_000018.4:c.1868C>T MANE Select	NP_000009.1:p.Ser623Phe
NM_001033859.3:c.1802C>T	NP_001029031.1:p.Ser601Phe
NM_001270447.2:c.1937C>T	NP_001257376.1:p.Ser646Phe
NM_001270448.2:c.1640C>T	NP_001257377.1:p.Ser547Phe