Canonical Allele Identifier: CA397726165

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128360T>C (hg19) ; chr17:g.7225041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225041T>C , CM000679.2:g.7225041T>C	GRCh38
NC_000017.10:g.7128360T>C , CM000679.1:g.7128360T>C	GRCh37
NC_000017.9:g.7069084T>C	NCBI36
NG_007975.1:g.10208T>C
NG_008391.2:g.10A>G
NG_033038.1:g.14504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1912T>C MANE Select	ENSP00000349297.5:p.Ser638Pro
ENST00000322910.9:c.*1867T>C	ENSP00000325395.5:n.*1867T>C
ENST00000350303.9:c.1846T>C	ENSP00000344152.5:p.Ser616Pro
ENST00000356839.9:c.1912T>C	ENSP00000349297.5:p.Ser638Pro
ENST00000542255.6:c.791T>C
ENST00000543245.6:c.1981T>C	ENSP00000438689.2:p.Ser661Pro
ENST00000578033.1:n.337T>C
ENST00000578319.5:n.493T>C
ENST00000578711.1:n.1537T>C
ENST00000578809.5:n.484T>C
ENST00000579425.5:n.1028T>C
ENST00000583848.5:c.278T>C	ENSP00000466487.1:n.278T>C
ENST00000583850.5:n.683T>C
ENST00000583858.5:c.843T>C
NM_000018.3:c.1912T>C	NP_000009.1:p.Ser638Pro
NM_001033859.2:c.1846T>C	NP_001029031.1:p.Ser616Pro
NM_001270447.1:c.1981T>C	NP_001257376.1:p.Ser661Pro
NM_001270448.1:c.1684T>C	NP_001257377.1:p.Ser562Pro
XM_006721516.2:c.1933T>C	XP_006721579.2:p.Ser645Pro
XM_011523829.1:c.1831T>C	XP_011522131.1:p.Ser611Pro
XM_011523830.1:c.1810T>C	XP_011522132.1:p.Ser604Pro
XR_934021.1:n.2015T>C
XR_934022.1:n.1921T>C
XR_934023.1:n.1942T>C
XM_006721516.3:c.1933T>C	XP_006721579.2:p.Ser645Pro
XM_011523829.2:c.1831T>C	XP_011522131.1:p.Ser611Pro
XM_011523830.2:c.1810T>C	XP_011522132.1:p.Ser604Pro
XM_024450741.1:c.1900T>C	XP_024306509.1:p.Ser634Pro
XR_934021.2:n.1967T>C
XR_934022.2:n.1873T>C
XR_934023.2:n.1894T>C
NM_000018.4:c.1912T>C MANE Select	NP_000009.1:p.Ser638Pro
NM_001033859.3:c.1846T>C	NP_001029031.1:p.Ser616Pro
NM_001270447.2:c.1981T>C	NP_001257376.1:p.Ser661Pro
NM_001270448.2:c.1684T>C	NP_001257377.1:p.Ser562Pro