Canonical Allele Identifier: CA397726154

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128355G>T (hg19) ; chr17:g.7225036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225036G>T , CM000679.2:g.7225036G>T	GRCh38
NC_000017.10:g.7128355G>T , CM000679.1:g.7128355G>T	GRCh37
NC_000017.9:g.7069079G>T	NCBI36
NG_007975.1:g.10203G>T
NG_008391.2:g.15C>A
NG_033038.1:g.14509C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1907G>T MANE Select	ENSP00000349297.5:p.Ser636Ile
ENST00000322910.9:c.*1862G>T	ENSP00000325395.5:n.*1862G>T
ENST00000350303.9:c.1841G>T	ENSP00000344152.5:p.Ser614Ile
ENST00000356839.9:c.1907G>T	ENSP00000349297.5:p.Ser636Ile
ENST00000542255.6:c.786G>T
ENST00000543245.6:c.1976G>T	ENSP00000438689.2:p.Ser659Ile
ENST00000578033.1:n.332G>T
ENST00000578319.5:n.488G>T
ENST00000578711.1:n.1532G>T
ENST00000578809.5:n.479G>T
ENST00000579425.5:n.1023G>T
ENST00000583848.5:c.273G>T	ENSP00000466487.1:n.273G>T
ENST00000583850.5:n.678G>T
ENST00000583858.5:c.838G>T
NM_000018.3:c.1907G>T	NP_000009.1:p.Ser636Ile
NM_001033859.2:c.1841G>T	NP_001029031.1:p.Ser614Ile
NM_001270447.1:c.1976G>T	NP_001257376.1:p.Ser659Ile
NM_001270448.1:c.1679G>T	NP_001257377.1:p.Ser560Ile
XM_006721516.2:c.1928G>T	XP_006721579.2:p.Ser643Ile
XM_011523829.1:c.1826G>T	XP_011522131.1:p.Ser609Ile
XM_011523830.1:c.1805G>T	XP_011522132.1:p.Ser602Ile
XR_934021.1:n.2010G>T
XR_934022.1:n.1916G>T
XR_934023.1:n.1937G>T
XM_006721516.3:c.1928G>T	XP_006721579.2:p.Ser643Ile
XM_011523829.2:c.1826G>T	XP_011522131.1:p.Ser609Ile
XM_011523830.2:c.1805G>T	XP_011522132.1:p.Ser602Ile
XM_024450741.1:c.1895G>T	XP_024306509.1:p.Ser632Ile
XR_934021.2:n.1962G>T
XR_934022.2:n.1868G>T
XR_934023.2:n.1889G>T
NM_000018.4:c.1907G>T MANE Select	NP_000009.1:p.Ser636Ile
NM_001033859.3:c.1841G>T	NP_001029031.1:p.Ser614Ile
NM_001270447.2:c.1976G>T	NP_001257376.1:p.Ser659Ile
NM_001270448.2:c.1679G>T	NP_001257377.1:p.Ser560Ile