Canonical Allele Identifier: CA397726130

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128346A>C (hg19) ; chr17:g.7225027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225027A>C , CM000679.2:g.7225027A>C	GRCh38
NC_000017.10:g.7128346A>C , CM000679.1:g.7128346A>C	GRCh37
NC_000017.9:g.7069070A>C	NCBI36
NG_007975.1:g.10194A>C
NG_008391.2:g.24T>G
NG_033038.1:g.14518T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1898A>C MANE Select	ENSP00000349297.5:p.Asn633Thr
ENST00000322910.9:c.*1853A>C	ENSP00000325395.5:n.*1853A>C
ENST00000350303.9:c.1832A>C	ENSP00000344152.5:p.Asn611Thr
ENST00000356839.9:c.1898A>C	ENSP00000349297.5:p.Asn633Thr
ENST00000542255.6:c.777A>C
ENST00000543245.6:c.1967A>C	ENSP00000438689.2:p.Asn656Thr
ENST00000578033.1:n.323A>C
ENST00000578319.5:n.479A>C
ENST00000578711.1:n.1523A>C
ENST00000578809.5:n.470A>C
ENST00000579425.5:n.1014A>C
ENST00000583848.5:c.264A>C	ENSP00000466487.1:n.264A>C
ENST00000583850.5:n.669A>C
ENST00000583858.5:c.829A>C
NM_000018.3:c.1898A>C	NP_000009.1:p.Asn633Thr
NM_001033859.2:c.1832A>C	NP_001029031.1:p.Asn611Thr
NM_001270447.1:c.1967A>C	NP_001257376.1:p.Asn656Thr
NM_001270448.1:c.1670A>C	NP_001257377.1:p.Asn557Thr
XM_006721516.2:c.1919A>C	XP_006721579.2:p.Asn640Thr
XM_011523829.1:c.1817A>C	XP_011522131.1:p.Asn606Thr
XM_011523830.1:c.1796A>C	XP_011522132.1:p.Asn599Thr
XR_934021.1:n.2001A>C
XR_934022.1:n.1907A>C
XR_934023.1:n.1928A>C
XM_006721516.3:c.1919A>C	XP_006721579.2:p.Asn640Thr
XM_011523829.2:c.1817A>C	XP_011522131.1:p.Asn606Thr
XM_011523830.2:c.1796A>C	XP_011522132.1:p.Asn599Thr
XM_024450741.1:c.1886A>C	XP_024306509.1:p.Asn629Thr
XR_934021.2:n.1953A>C
XR_934022.2:n.1859A>C
XR_934023.2:n.1880A>C
NM_000018.4:c.1898A>C MANE Select	NP_000009.1:p.Asn633Thr
NM_001033859.3:c.1832A>C	NP_001029031.1:p.Asn611Thr
NM_001270447.2:c.1967A>C	NP_001257376.1:p.Asn656Thr
NM_001270448.2:c.1670A>C	NP_001257377.1:p.Asn557Thr