Canonical Allele Identifier: CA397726063

Gene: ACADVL

Linked Data

• dbSNP Id: rs1394155627
• gnomAD v2: 17-7128315-T-C
• gnomAD v4: 17-7224996-T-C
• MyVariant Identifiers: chr17:g.7128315T>C (hg19) ; chr17:g.7224996T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224996T>C , CM000679.2:g.7224996T>C	GRCh38
NC_000017.10:g.7128315T>C , CM000679.1:g.7128315T>C	GRCh37
NC_000017.9:g.7069039T>C	NCBI36
NG_007975.1:g.10163T>C
NG_008391.2:g.55A>G
NG_033038.1:g.14549A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1867T>C MANE Select	ENSP00000349297.5:p.Ser623Pro
ENST00000322910.9:c.*1822T>C	ENSP00000325395.5:n.*1822T>C
ENST00000350303.9:c.1801T>C	ENSP00000344152.5:p.Ser601Pro
ENST00000356839.9:c.1867T>C	ENSP00000349297.5:p.Ser623Pro
ENST00000542255.6:c.746T>C
ENST00000543245.6:c.1936T>C	ENSP00000438689.2:p.Ser646Pro
ENST00000578033.1:n.292T>C
ENST00000578319.5:n.448T>C
ENST00000578711.1:n.1492T>C
ENST00000578809.5:n.439T>C
ENST00000579425.5:n.983T>C
ENST00000583848.5:c.233T>C	ENSP00000466487.1:n.233T>C
ENST00000583850.5:n.638T>C
ENST00000583858.5:c.798T>C
NM_000018.3:c.1867T>C	NP_000009.1:p.Ser623Pro
NM_001033859.2:c.1801T>C	NP_001029031.1:p.Ser601Pro
NM_001270447.1:c.1936T>C	NP_001257376.1:p.Ser646Pro
NM_001270448.1:c.1639T>C	NP_001257377.1:p.Ser547Pro
XM_006721516.2:c.1888T>C	XP_006721579.2:p.Ser630Pro
XM_011523829.1:c.1786T>C	XP_011522131.1:p.Ser596Pro
XM_011523830.1:c.1765T>C	XP_011522132.1:p.Ser589Pro
XR_934021.1:n.1970T>C
XR_934022.1:n.1876T>C
XR_934023.1:n.1897T>C
XM_006721516.3:c.1888T>C	XP_006721579.2:p.Ser630Pro
XM_011523829.2:c.1786T>C	XP_011522131.1:p.Ser596Pro
XM_011523830.2:c.1765T>C	XP_011522132.1:p.Ser589Pro
XM_024450741.1:c.1855T>C	XP_024306509.1:p.Ser619Pro
XR_934021.2:n.1922T>C
XR_934022.2:n.1828T>C
XR_934023.2:n.1849T>C
NM_000018.4:c.1867T>C MANE Select	NP_000009.1:p.Ser623Pro
NM_001033859.3:c.1801T>C	NP_001029031.1:p.Ser601Pro
NM_001270447.2:c.1936T>C	NP_001257376.1:p.Ser646Pro
NM_001270448.2:c.1639T>C	NP_001257377.1:p.Ser547Pro