Canonical Allele Identifier: CA397725745

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128010T>G (hg19) ; chr17:g.7224691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224691T>G , CM000679.2:g.7224691T>G	GRCh38
NC_000017.10:g.7128010T>G , CM000679.1:g.7128010T>G	GRCh37
NC_000017.9:g.7068734T>G	NCBI36
NG_007975.1:g.9858T>G
NG_008391.2:g.360A>C
NG_033038.1:g.14854A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1728T>G MANE Select	ENSP00000349297.5:p.Tyr576Ter
ENST00000322910.9:c.*1683T>G	ENSP00000325395.5:n.*1683T>G
ENST00000350303.9:c.1662T>G	ENSP00000344152.5:p.Tyr554Ter
ENST00000356839.9:c.1728T>G	ENSP00000349297.5:p.Tyr576Ter
ENST00000542255.6:c.537-24T>G
ENST00000543245.6:c.1797T>G	ENSP00000438689.2:p.Tyr599Ter
ENST00000578033.1:n.59T>G
ENST00000578319.5:n.309T>G
ENST00000578711.1:n.1187T>G
ENST00000578809.5:n.300T>G
ENST00000579425.5:n.844T>G
ENST00000579546.1:c.463T>G
ENST00000583074.5:n.300-24T>G
ENST00000583848.5:c.94T>G	ENSP00000466487.1:p.Cys32Gly
ENST00000583850.5:n.499T>G
ENST00000583858.5:c.659T>G
ENST00000585203.6:n.919T>G
NM_000018.3:c.1728T>G	NP_000009.1:p.Tyr576Ter
NM_001033859.2:c.1662T>G	NP_001029031.1:p.Tyr554Ter
NM_001270447.1:c.1797T>G	NP_001257376.1:p.Tyr599Ter
NM_001270448.1:c.1500T>G	NP_001257377.1:p.Tyr500Ter
XM_006721516.2:c.1679-24T>G	XP_006721579.2:n.1679-24T>G
XM_011523829.1:c.1577-24T>G	XP_011522131.1:n.1577-24T>G
XM_011523830.1:c.1626T>G	XP_011522132.1:p.Tyr542Ter
XR_934021.1:n.1831T>G
XR_934022.1:n.1737T>G
XR_934023.1:n.1688-24T>G
XM_006721516.3:c.1679-24T>G	XP_006721579.2:n.1679-24T>G
XM_011523829.2:c.1577-24T>G	XP_011522131.1:n.1577-24T>G
XM_011523830.2:c.1626T>G	XP_011522132.1:p.Tyr542Ter
XM_024450741.1:c.1716T>G	XP_024306509.1:p.Tyr572Ter
XR_934021.2:n.1783T>G
XR_934022.2:n.1689T>G
XR_934023.2:n.1640-24T>G
NM_000018.4:c.1728T>G MANE Select	NP_000009.1:p.Tyr576Ter
NM_001033859.3:c.1662T>G	NP_001029031.1:p.Tyr554Ter
NM_001270447.2:c.1797T>G	NP_001257376.1:p.Tyr599Ter
NM_001270448.2:c.1500T>G	NP_001257377.1:p.Tyr500Ter