Canonical Allele Identifier: CA8338285

Gene: ACADVL

Linked Data

• dbSNP Id: rs777612516
• ExAC: 17:7128253 A / G
• gnomAD v2: 17-7128253-A-G
• gnomAD v3: 17-7224934-A-G
• gnomAD v4: 17-7224934-A-G
• MyVariant Identifiers: chr17:g.7128253A>G (hg19) ; chr17:g.7224934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224934A>G , CM000679.2:g.7224934A>G	GRCh38
NC_000017.10:g.7128253A>G , CM000679.1:g.7128253A>G	GRCh37
NC_000017.9:g.7068977A>G	NCBI36
NG_007975.1:g.10101A>G
NG_008391.2:g.117T>C
NG_033038.1:g.14611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1828-23A>G MANE Select	ENSP00000349297.5:n.1828-23A>G
ENST00000322910.9:c.*1783-23A>G	ENSP00000325395.5:n.*1783-23A>G
ENST00000350303.9:c.1762-23A>G	ENSP00000344152.5:n.1762-23A>G
ENST00000356839.9:c.1828-23A>G	ENSP00000349297.5:n.1828-23A>G
ENST00000542255.6:c.707-23A>G
ENST00000543245.6:c.1897-23A>G	ENSP00000438689.2:n.1897-23A>G
ENST00000578033.1:n.253-23A>G
ENST00000578319.5:n.409-23A>G
ENST00000578711.1:n.1430A>G
ENST00000578809.5:n.400-23A>G
ENST00000579425.5:n.944-23A>G
ENST00000579546.1:c.563-23A>G
ENST00000583848.5:c.194-23A>G	ENSP00000466487.1:n.194-23A>G
ENST00000583850.5:n.599-23A>G
ENST00000583858.5:c.759-23A>G
NM_000018.3:c.1828-23A>G	NP_000009.1:n.1828-23A>G
NM_001033859.2:c.1762-23A>G	NP_001029031.1:n.1762-23A>G
NM_001270447.1:c.1897-23A>G	NP_001257376.1:n.1897-23A>G
NM_001270448.1:c.1600-23A>G	NP_001257377.1:n.1600-23A>G
XM_006721516.2:c.1849-23A>G	XP_006721579.2:n.1849-23A>G
XM_011523829.1:c.1747-23A>G	XP_011522131.1:n.1747-23A>G
XM_011523830.1:c.1726-23A>G	XP_011522132.1:n.1726-23A>G
XR_934021.1:n.1931-23A>G
XR_934022.1:n.1837-23A>G
XR_934023.1:n.1858-23A>G
XM_006721516.3:c.1849-23A>G	XP_006721579.2:n.1849-23A>G
XM_011523829.2:c.1747-23A>G	XP_011522131.1:n.1747-23A>G
XM_011523830.2:c.1726-23A>G	XP_011522132.1:n.1726-23A>G
XM_024450741.1:c.1816-23A>G	XP_024306509.1:n.1816-23A>G
XR_934021.2:n.1883-23A>G
XR_934022.2:n.1789-23A>G
XR_934023.2:n.1810-23A>G
NM_000018.4:c.1828-23A>G MANE Select	NP_000009.1:n.1828-23A>G
NM_001033859.3:c.1762-23A>G	NP_001029031.1:n.1762-23A>G
NM_001270447.2:c.1897-23A>G	NP_001257376.1:n.1897-23A>G
NM_001270448.2:c.1600-23A>G	NP_001257377.1:n.1600-23A>G