Canonical Allele Identifier: CA8338215

Gene: ACADVL

Linked Data

• dbSNP Id: rs752987714
• ExAC: 17:7127907 C / T
• gnomAD v2: 17-7127907-C-T
• gnomAD v4: 17-7224588-C-T
• MyVariant Identifiers: chr17:g.7127907C>T (hg19) ; chr17:g.7224588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224588C>T , CM000679.2:g.7224588C>T	GRCh38
NC_000017.10:g.7127907C>T , CM000679.1:g.7127907C>T	GRCh37
NC_000017.9:g.7068631C>T	NCBI36
NG_007975.1:g.9755C>T
NG_008391.2:g.463G>A
NG_033038.1:g.14957G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+36C>T MANE Select	ENSP00000349297.5:n.1678+36C>T
ENST00000322910.9:c.*1633+36C>T	ENSP00000325395.5:n.*1633+36C>T
ENST00000350303.9:c.1612+36C>T	ENSP00000344152.5:n.1612+36C>T
ENST00000356839.9:c.1678+36C>T	ENSP00000349297.5:n.1678+36C>T
ENST00000542255.6:c.536+36C>T
ENST00000543245.6:c.1747+36C>T	ENSP00000438689.2:n.1747+36C>T
ENST00000578319.5:n.259+36C>T
ENST00000578711.1:n.1084C>T
ENST00000578809.5:n.250+36C>T
ENST00000579391.1:n.318C>T
ENST00000579425.5:n.794+36C>T
ENST00000579546.1:c.413+36C>T
ENST00000582450.1:n.222C>T
ENST00000583074.5:n.299+36C>T
ENST00000583848.5:c.64+36C>T	ENSP00000466487.1:n.64+36C>T
ENST00000583850.5:n.449+36C>T
ENST00000583858.5:c.609+36C>T
ENST00000585203.6:n.869+36C>T
NM_000018.3:c.1678+36C>T	NP_000009.1:n.1678+36C>T
NM_001033859.2:c.1612+36C>T	NP_001029031.1:n.1612+36C>T
NM_001270447.1:c.1747+36C>T	NP_001257376.1:n.1747+36C>T
NM_001270448.1:c.1450+36C>T	NP_001257377.1:n.1450+36C>T
XM_006721516.2:c.1678+36C>T	XP_006721579.2:n.1678+36C>T
XM_011523829.1:c.1576+36C>T	XP_011522131.1:n.1576+36C>T
XM_011523830.1:c.1576+36C>T	XP_011522132.1:n.1576+36C>T
XR_934021.1:n.1781+36C>T
XR_934022.1:n.1687+36C>T
XR_934023.1:n.1687+36C>T
XM_006721516.3:c.1678+36C>T	XP_006721579.2:n.1678+36C>T
XM_011523829.2:c.1576+36C>T	XP_011522131.1:n.1576+36C>T
XM_011523830.2:c.1576+36C>T	XP_011522132.1:n.1576+36C>T
XM_024450741.1:c.1666+36C>T	XP_024306509.1:n.1666+36C>T
XR_934021.2:n.1733+36C>T
XR_934022.2:n.1639+36C>T
XR_934023.2:n.1639+36C>T
NM_000018.4:c.1678+36C>T MANE Select	NP_000009.1:n.1678+36C>T
NM_001033859.3:c.1612+36C>T	NP_001029031.1:n.1612+36C>T
NM_001270447.2:c.1747+36C>T	NP_001257376.1:n.1747+36C>T
NM_001270448.2:c.1450+36C>T	NP_001257377.1:n.1450+36C>T