Canonical Allele Identifier: CA287440629

Gene: ACADVL

Linked Data

• dbSNP Id: rs113235875
• MyVariant Identifiers: chr17:g.7127872G>A (hg19) ; chr17:g.7224553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224553G>A , CM000679.2:g.7224553G>A	GRCh38
NC_000017.10:g.7127872G>A , CM000679.1:g.7127872G>A	GRCh37
NC_000017.9:g.7068596G>A	NCBI36
NG_007975.1:g.9720G>A
NG_008391.2:g.498C>T
NG_033038.1:g.14992C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+1G>A MANE Select	ENSP00000349297.5:n.1678+1G>A
ENST00000322910.9:c.*1633+1G>A	ENSP00000325395.5:n.*1633+1G>A
ENST00000350303.9:c.1612+1G>A	ENSP00000344152.5:n.1612+1G>A
ENST00000356839.9:c.1678+1G>A	ENSP00000349297.5:n.1678+1G>A
ENST00000542255.6:c.536+1G>A
ENST00000543245.6:c.1747+1G>A	ENSP00000438689.2:n.1747+1G>A
ENST00000578319.5:n.259+1G>A
ENST00000578711.1:n.1049G>A
ENST00000578809.5:n.250+1G>A
ENST00000579391.1:n.283G>A
ENST00000579425.5:n.794+1G>A
ENST00000579546.1:c.413+1G>A
ENST00000582450.1:n.187G>A
ENST00000583074.5:n.299+1G>A
ENST00000583848.5:c.64+1G>A	ENSP00000466487.1:n.64+1G>A
ENST00000583850.5:n.449+1G>A
ENST00000583858.5:c.609+1G>A
ENST00000585203.6:n.869+1G>A
NM_000018.3:c.1678+1G>A	NP_000009.1:n.1678+1G>A
NM_001033859.2:c.1612+1G>A	NP_001029031.1:n.1612+1G>A
NM_001270447.1:c.1747+1G>A	NP_001257376.1:n.1747+1G>A
NM_001270448.1:c.1450+1G>A	NP_001257377.1:n.1450+1G>A
XM_006721516.2:c.1678+1G>A	XP_006721579.2:n.1678+1G>A
XM_011523829.1:c.1576+1G>A	XP_011522131.1:n.1576+1G>A
XM_011523830.1:c.1576+1G>A	XP_011522132.1:n.1576+1G>A
XR_934021.1:n.1781+1G>A
XR_934022.1:n.1687+1G>A
XR_934023.1:n.1687+1G>A
XM_006721516.3:c.1678+1G>A	XP_006721579.2:n.1678+1G>A
XM_011523829.2:c.1576+1G>A	XP_011522131.1:n.1576+1G>A
XM_011523830.2:c.1576+1G>A	XP_011522132.1:n.1576+1G>A
XM_024450741.1:c.1666+1G>A	XP_024306509.1:n.1666+1G>A
XR_934021.2:n.1733+1G>A
XR_934022.2:n.1639+1G>A
XR_934023.2:n.1639+1G>A
NM_000018.4:c.1678+1G>A MANE Select	NP_000009.1:n.1678+1G>A
NM_001033859.3:c.1612+1G>A	NP_001029031.1:n.1612+1G>A
NM_001270447.2:c.1747+1G>A	NP_001257376.1:n.1747+1G>A
NM_001270448.2:c.1450+1G>A	NP_001257377.1:n.1450+1G>A