Canonical Allele Identifier: CA397722418

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123966C>A (hg19) ; chr17:g.7220647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220647C>A , CM000679.2:g.7220647C>A	GRCh38
NC_000017.10:g.7123966C>A , CM000679.1:g.7123966C>A	GRCh37
NC_000017.9:g.7064690C>A	NCBI36
NG_007975.1:g.5814C>A
NG_008391.2:g.4404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.248C>A MANE Select	ENSP00000349297.5:p.Thr83Asn
ENST00000322910.9:c.*203C>A	ENSP00000325395.5:n.*203C>A
ENST00000350303.9:c.182C>A	ENSP00000344152.5:p.Thr61Asn
ENST00000356839.9:c.248C>A	ENSP00000349297.5:p.Thr83Asn
ENST00000543245.6:c.317C>A	ENSP00000438689.2:p.Thr106Asn
ENST00000577191.5:n.325C>A
ENST00000577433.5:n.456C>A
ENST00000577857.5:n.229-119C>A
ENST00000578269.5:n.695C>A
ENST00000578421.1:n.456C>A
ENST00000579286.5:n.429C>A
ENST00000579886.2:c.201+121C>A	ENSP00000463246.1:n.201+121C>A
ENST00000580263.5:n.412C>A
ENST00000581562.5:n.295C>A
ENST00000582056.5:n.338C>A
ENST00000582166.1:n.136C>A
ENST00000582356.5:n.447C>A
ENST00000583312.5:c.248C>A	ENSP00000467920.1:p.Thr83Asn
ENST00000584103.5:c.248C>A	ENSP00000465353.1:p.Thr83Asn
NM_000018.3:c.248C>A	NP_000009.1:p.Thr83Asn
NM_001033859.2:c.182C>A	NP_001029031.1:p.Thr61Asn
NM_001270447.1:c.317C>A	NP_001257376.1:p.Thr106Asn
NM_001270448.1:c.20C>A	NP_001257377.1:p.Thr7Asn
XM_006721516.2:c.248C>A	XP_006721579.2:p.Thr83Asn
XM_011523829.1:c.248C>A	XP_011522131.1:p.Thr83Asn
XM_011523830.1:c.248C>A	XP_011522132.1:p.Thr83Asn
XR_934021.1:n.355C>A
XR_934022.1:n.355C>A
XR_934023.1:n.355C>A
XM_006721516.3:c.248C>A	XP_006721579.2:p.Thr83Asn
XM_011523829.2:c.248C>A	XP_011522131.1:p.Thr83Asn
XM_011523830.2:c.248C>A	XP_011522132.1:p.Thr83Asn
XM_024450741.1:c.248C>A	XP_024306509.1:p.Thr83Asn
XR_934021.2:n.307C>A
XR_934022.2:n.307C>A
XR_934023.2:n.307C>A
NM_000018.4:c.248C>A MANE Select	NP_000009.1:p.Thr83Asn
NM_001033859.3:c.182C>A	NP_001029031.1:p.Thr61Asn
NM_001270447.2:c.317C>A	NP_001257376.1:p.Thr106Asn
NM_001270448.2:c.20C>A	NP_001257377.1:p.Thr7Asn