Canonical Allele Identifier: CA287440726

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 811338
• ClinVar RCV Id: RCV001001135
• dbSNP Id: rs1023643662
• gnomAD v2: 17-7127900-T-C
• gnomAD v4: 17-7224581-T-C
• MyVariant Identifiers: chr17:g.7127900T>C (hg19) ; chr17:g.7224581T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224581T>C , CM000679.2:g.7224581T>C	GRCh38
NC_000017.10:g.7127900T>C , CM000679.1:g.7127900T>C	GRCh37
NC_000017.9:g.7068624T>C	NCBI36
NG_007975.1:g.9748T>C
NG_008391.2:g.470A>G
NG_033038.1:g.14964A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+29T>C MANE Select	ENSP00000349297.5:n.1678+29T>C
ENST00000322910.9:c.*1633+29T>C	ENSP00000325395.5:n.*1633+29T>C
ENST00000350303.9:c.1612+29T>C	ENSP00000344152.5:n.1612+29T>C
ENST00000356839.9:c.1678+29T>C	ENSP00000349297.5:n.1678+29T>C
ENST00000542255.6:c.536+29T>C
ENST00000543245.6:c.1747+29T>C	ENSP00000438689.2:n.1747+29T>C
ENST00000578319.5:n.259+29T>C
ENST00000578711.1:n.1077T>C
ENST00000578809.5:n.250+29T>C
ENST00000579391.1:n.311T>C
ENST00000579425.5:n.794+29T>C
ENST00000579546.1:c.413+29T>C
ENST00000582450.1:n.215T>C
ENST00000583074.5:n.299+29T>C
ENST00000583848.5:c.64+29T>C	ENSP00000466487.1:n.64+29T>C
ENST00000583850.5:n.449+29T>C
ENST00000583858.5:c.609+29T>C
ENST00000585203.6:n.869+29T>C
NM_000018.3:c.1678+29T>C	NP_000009.1:n.1678+29T>C
NM_001033859.2:c.1612+29T>C	NP_001029031.1:n.1612+29T>C
NM_001270447.1:c.1747+29T>C	NP_001257376.1:n.1747+29T>C
NM_001270448.1:c.1450+29T>C	NP_001257377.1:n.1450+29T>C
XM_006721516.2:c.1678+29T>C	XP_006721579.2:n.1678+29T>C
XM_011523829.1:c.1576+29T>C	XP_011522131.1:n.1576+29T>C
XM_011523830.1:c.1576+29T>C	XP_011522132.1:n.1576+29T>C
XR_934021.1:n.1781+29T>C
XR_934022.1:n.1687+29T>C
XR_934023.1:n.1687+29T>C
XM_006721516.3:c.1678+29T>C	XP_006721579.2:n.1678+29T>C
XM_011523829.2:c.1576+29T>C	XP_011522131.1:n.1576+29T>C
XM_011523830.2:c.1576+29T>C	XP_011522132.1:n.1576+29T>C
XM_024450741.1:c.1666+29T>C	XP_024306509.1:n.1666+29T>C
XR_934021.2:n.1733+29T>C
XR_934022.2:n.1639+29T>C
XR_934023.2:n.1639+29T>C
NM_000018.4:c.1678+29T>C MANE Select	NP_000009.1:n.1678+29T>C
NM_001033859.3:c.1612+29T>C	NP_001029031.1:n.1612+29T>C
NM_001270447.2:c.1747+29T>C	NP_001257376.1:n.1747+29T>C
NM_001270448.2:c.1450+29T>C	NP_001257377.1:n.1450+29T>C