Canonical Allele Identifier: CA397724141

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126110C>A (hg19) ; chr17:g.7222791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222791C>A , CM000679.2:g.7222791C>A	GRCh38
NC_000017.10:g.7126110C>A , CM000679.1:g.7126110C>A	GRCh37
NC_000017.9:g.7066834C>A	NCBI36
NG_007975.1:g.7958C>A
NG_008391.2:g.2260G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1003C>A MANE Select	ENSP00000349297.5:p.His335Asn
ENST00000322910.9:c.*958C>A	ENSP00000325395.5:n.*958C>A
ENST00000350303.9:c.937C>A	ENSP00000344152.5:p.His313Asn
ENST00000356839.9:c.1003C>A	ENSP00000349297.5:p.His335Asn
ENST00000543245.6:c.1072C>A	ENSP00000438689.2:p.His358Asn
ENST00000578824.5:n.152C>A
ENST00000581378.5:c.721C>A
ENST00000582379.1:n.387C>A
ENST00000583858.5:c.32C>A
NM_000018.3:c.1003C>A	NP_000009.1:p.His335Asn
NM_001033859.2:c.937C>A	NP_001029031.1:p.His313Asn
NM_001270447.1:c.1072C>A	NP_001257376.1:p.His358Asn
NM_001270448.1:c.775C>A	NP_001257377.1:p.His259Asn
XM_006721516.2:c.1003C>A	XP_006721579.2:p.His335Asn
XM_011523829.1:c.1003C>A	XP_011522131.1:p.His335Asn
XM_011523830.1:c.1003C>A	XP_011522132.1:p.His335Asn
XR_934021.1:n.1110C>A
XR_934022.1:n.1110C>A
XR_934023.1:n.1110C>A
XM_006721516.3:c.1003C>A	XP_006721579.2:p.His335Asn
XM_011523829.2:c.1003C>A	XP_011522131.1:p.His335Asn
XM_011523830.2:c.1003C>A	XP_011522132.1:p.His335Asn
XM_024450741.1:c.1003C>A	XP_024306509.1:p.His335Asn
XR_934021.2:n.1062C>A
XR_934022.2:n.1062C>A
XR_934023.2:n.1062C>A
NM_000018.4:c.1003C>A MANE Select	NP_000009.1:p.His335Asn
NM_001033859.3:c.937C>A	NP_001029031.1:p.His313Asn
NM_001270447.2:c.1072C>A	NP_001257376.1:p.His358Asn
NM_001270448.2:c.775C>A	NP_001257377.1:p.His259Asn