Canonical Allele Identifier: CA397726116

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128339T>C (hg19) ; chr17:g.7225020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225020T>C , CM000679.2:g.7225020T>C	GRCh38
NC_000017.10:g.7128339T>C , CM000679.1:g.7128339T>C	GRCh37
NC_000017.9:g.7069063T>C	NCBI36
NG_007975.1:g.10187T>C
NG_008391.2:g.31A>G
NG_033038.1:g.14525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1891T>C MANE Select	ENSP00000349297.5:p.Tyr631His
ENST00000322910.9:c.*1846T>C	ENSP00000325395.5:n.*1846T>C
ENST00000350303.9:c.1825T>C	ENSP00000344152.5:p.Tyr609His
ENST00000356839.9:c.1891T>C	ENSP00000349297.5:p.Tyr631His
ENST00000542255.6:c.770T>C
ENST00000543245.6:c.1960T>C	ENSP00000438689.2:p.Tyr654His
ENST00000578033.1:n.316T>C
ENST00000578319.5:n.472T>C
ENST00000578711.1:n.1516T>C
ENST00000578809.5:n.463T>C
ENST00000579425.5:n.1007T>C
ENST00000583848.5:c.257T>C	ENSP00000466487.1:n.257T>C
ENST00000583850.5:n.662T>C
ENST00000583858.5:c.822T>C
NM_000018.3:c.1891T>C	NP_000009.1:p.Tyr631His
NM_001033859.2:c.1825T>C	NP_001029031.1:p.Tyr609His
NM_001270447.1:c.1960T>C	NP_001257376.1:p.Tyr654His
NM_001270448.1:c.1663T>C	NP_001257377.1:p.Tyr555His
XM_006721516.2:c.1912T>C	XP_006721579.2:p.Tyr638His
XM_011523829.1:c.1810T>C	XP_011522131.1:p.Tyr604His
XM_011523830.1:c.1789T>C	XP_011522132.1:p.Tyr597His
XR_934021.1:n.1994T>C
XR_934022.1:n.1900T>C
XR_934023.1:n.1921T>C
XM_006721516.3:c.1912T>C	XP_006721579.2:p.Tyr638His
XM_011523829.2:c.1810T>C	XP_011522131.1:p.Tyr604His
XM_011523830.2:c.1789T>C	XP_011522132.1:p.Tyr597His
XM_024450741.1:c.1879T>C	XP_024306509.1:p.Tyr627His
XR_934021.2:n.1946T>C
XR_934022.2:n.1852T>C
XR_934023.2:n.1873T>C
NM_000018.4:c.1891T>C MANE Select	NP_000009.1:p.Tyr631His
NM_001033859.3:c.1825T>C	NP_001029031.1:p.Tyr609His
NM_001270447.2:c.1960T>C	NP_001257376.1:p.Tyr654His
NM_001270448.2:c.1663T>C	NP_001257377.1:p.Tyr555His