Canonical Allele Identifier: CA397725593

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127855C>A (hg19) ; chr17:g.7224536C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224536C>A , CM000679.2:g.7224536C>A	GRCh38
NC_000017.10:g.7127855C>A , CM000679.1:g.7127855C>A	GRCh37
NC_000017.9:g.7068579C>A	NCBI36
NG_007975.1:g.9703C>A
NG_008391.2:g.515G>T
NG_033038.1:g.15009G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1662C>A MANE Select	ENSP00000349297.5:p.His554Gln
ENST00000322910.9:c.*1617C>A	ENSP00000325395.5:n.*1617C>A
ENST00000350303.9:c.1596C>A	ENSP00000344152.5:p.His532Gln
ENST00000356839.9:c.1662C>A	ENSP00000349297.5:p.His554Gln
ENST00000542255.6:c.520C>A
ENST00000543245.6:c.1731C>A	ENSP00000438689.2:p.His577Gln
ENST00000578319.5:n.243C>A
ENST00000578711.1:n.1032C>A
ENST00000578809.5:n.234C>A
ENST00000579391.1:n.266C>A
ENST00000579425.5:n.778C>A
ENST00000579546.1:c.397C>A
ENST00000582450.1:n.170C>A
ENST00000583074.5:n.283C>A
ENST00000583848.5:c.48C>A	ENSP00000466487.1:p.His16Gln
ENST00000583850.5:n.433C>A
ENST00000583858.5:c.593C>A
ENST00000585203.6:n.853C>A
NM_000018.3:c.1662C>A	NP_000009.1:p.His554Gln
NM_001033859.2:c.1596C>A	NP_001029031.1:p.His532Gln
NM_001270447.1:c.1731C>A	NP_001257376.1:p.His577Gln
NM_001270448.1:c.1434C>A	NP_001257377.1:p.His478Gln
XM_006721516.2:c.1662C>A	XP_006721579.2:p.His554Gln
XM_011523829.1:c.1560C>A	XP_011522131.1:p.His520Gln
XM_011523830.1:c.1560C>A	XP_011522132.1:p.His520Gln
XR_934021.1:n.1765C>A
XR_934022.1:n.1671C>A
XR_934023.1:n.1671C>A
XM_006721516.3:c.1662C>A	XP_006721579.2:p.His554Gln
XM_011523829.2:c.1560C>A	XP_011522131.1:p.His520Gln
XM_011523830.2:c.1560C>A	XP_011522132.1:p.His520Gln
XM_024450741.1:c.1650C>A	XP_024306509.1:p.His550Gln
XR_934021.2:n.1717C>A
XR_934022.2:n.1623C>A
XR_934023.2:n.1623C>A
NM_000018.4:c.1662C>A MANE Select	NP_000009.1:p.His554Gln
NM_001033859.3:c.1596C>A	NP_001029031.1:p.His532Gln
NM_001270447.2:c.1731C>A	NP_001257376.1:p.His577Gln
NM_001270448.2:c.1434C>A	NP_001257377.1:p.His478Gln