Canonical Allele Identifier: CA8338315

Gene: ACADVL

Linked Data

• dbSNP Id: rs772594324
• ExAC: 17:7128394 C / A
• MyVariant Identifiers: chr17:g.7128394C>A (hg19) ; chr17:g.7225075C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225075C>A , CM000679.2:g.7225075C>A	GRCh38
NC_000017.10:g.7128394C>A , CM000679.1:g.7128394C>A	GRCh37
NC_000017.9:g.7069118C>A	NCBI36
NG_007975.1:g.10242C>A
NG_033038.1:g.14470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1946C>A MANE Select	ENSP00000349297.5:p.Thr649Asn
ENST00000322910.9:c.*1901C>A	ENSP00000325395.5:n.*1901C>A
ENST00000350303.9:c.1880C>A	ENSP00000344152.5:p.Thr627Asn
ENST00000356839.9:c.1946C>A	ENSP00000349297.5:p.Thr649Asn
ENST00000542255.6:c.825C>A
ENST00000543245.6:c.2015C>A	ENSP00000438689.2:p.Thr672Asn
ENST00000578033.1:n.371C>A
ENST00000578319.5:n.527C>A
ENST00000578711.1:n.1571C>A
ENST00000578809.5:n.518C>A
ENST00000579425.5:n.1062C>A
ENST00000583848.5:c.312C>A	ENSP00000466487.1:n.312C>A
ENST00000583850.5:n.717C>A
ENST00000583858.5:c.877C>A
NM_000018.3:c.1946C>A	NP_000009.1:p.Thr649Asn
NM_001033859.2:c.1880C>A	NP_001029031.1:p.Thr627Asn
NM_001270447.1:c.2015C>A	NP_001257376.1:p.Thr672Asn
NM_001270448.1:c.1718C>A	NP_001257377.1:p.Thr573Asn
XM_006721516.2:c.1967C>A	XP_006721579.2:p.Thr656Asn
XM_011523829.1:c.1865C>A	XP_011522131.1:p.Thr622Asn
XM_011523830.1:c.1844C>A	XP_011522132.1:p.Thr615Asn
XR_934021.1:n.2049C>A
XR_934022.1:n.1955C>A
XR_934023.1:n.1976C>A
XM_006721516.3:c.1967C>A	XP_006721579.2:p.Thr656Asn
XM_011523829.2:c.1865C>A	XP_011522131.1:p.Thr622Asn
XM_011523830.2:c.1844C>A	XP_011522132.1:p.Thr615Asn
XM_024450741.1:c.1934C>A	XP_024306509.1:p.Thr645Asn
XR_934021.2:n.2001C>A
XR_934022.2:n.1907C>A
XR_934023.2:n.1928C>A
NM_000018.4:c.1946C>A MANE Select	NP_000009.1:p.Thr649Asn
NM_001033859.3:c.1880C>A	NP_001029031.1:p.Thr627Asn
NM_001270447.2:c.2015C>A	NP_001257376.1:p.Thr672Asn
NM_001270448.2:c.1718C>A	NP_001257377.1:p.Thr573Asn