Canonical Allele Identifier: CA397724343

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126468A>G (hg19) ; chr17:g.7223149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223149A>G , CM000679.2:g.7223149A>G	GRCh38
NC_000017.10:g.7126468A>G , CM000679.1:g.7126468A>G	GRCh37
NC_000017.9:g.7067192A>G	NCBI36
NG_007975.1:g.8316A>G
NG_008391.2:g.1902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1094A>G MANE Select	ENSP00000349297.5:p.Asn365Ser
ENST00000322910.9:c.*1049A>G	ENSP00000325395.5:n.*1049A>G
ENST00000350303.9:c.1028A>G	ENSP00000344152.5:p.Asn343Ser
ENST00000356839.9:c.1094A>G	ENSP00000349297.5:p.Asn365Ser
ENST00000543245.6:c.1163A>G	ENSP00000438689.2:p.Asn388Ser
ENST00000578579.2:n.43A>G
ENST00000578824.5:n.510A>G
ENST00000579425.5:n.118A>G
ENST00000582379.1:n.745A>G
ENST00000583858.5:c.123A>G
ENST00000585203.6:n.302A>G
NM_000018.3:c.1094A>G	NP_000009.1:p.Asn365Ser
NM_001033859.2:c.1028A>G	NP_001029031.1:p.Asn343Ser
NM_001270447.1:c.1163A>G	NP_001257376.1:p.Asn388Ser
NM_001270448.1:c.866A>G	NP_001257377.1:p.Asn289Ser
XM_006721516.2:c.1094A>G	XP_006721579.2:p.Asn365Ser
XM_011523829.1:c.1094A>G	XP_011522131.1:p.Asn365Ser
XM_011523830.1:c.1094A>G	XP_011522132.1:p.Asn365Ser
XR_934021.1:n.1201A>G
XR_934022.1:n.1201A>G
XR_934023.1:n.1201A>G
XM_006721516.3:c.1094A>G	XP_006721579.2:p.Asn365Ser
XM_011523829.2:c.1094A>G	XP_011522131.1:p.Asn365Ser
XM_011523830.2:c.1094A>G	XP_011522132.1:p.Asn365Ser
XM_024450741.1:c.1094A>G	XP_024306509.1:p.Asn365Ser
XR_934021.2:n.1153A>G
XR_934022.2:n.1153A>G
XR_934023.2:n.1153A>G
NM_000018.4:c.1094A>G MANE Select	NP_000009.1:p.Asn365Ser
NM_001033859.3:c.1028A>G	NP_001029031.1:p.Asn343Ser
NM_001270447.2:c.1163A>G	NP_001257376.1:p.Asn388Ser
NM_001270448.2:c.866A>G	NP_001257377.1:p.Asn289Ser