Canonical Allele Identifier: CA624860738

Gene: ACADVL

Linked Data

• dbSNP Id: rs1309350103
• gnomAD v2: 17-7128273-C-G
• gnomAD v4: 17-7224954-C-G
• MyVariant Identifiers: chr17:g.7128273C>G (hg19) ; chr17:g.7224954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224954C>G , CM000679.2:g.7224954C>G	GRCh38
NC_000017.10:g.7128273C>G , CM000679.1:g.7128273C>G	GRCh37
NC_000017.9:g.7068997C>G	NCBI36
NG_007975.1:g.10121C>G
NG_008391.2:g.97G>C
NG_033038.1:g.14591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1828-3C>G MANE Select	ENSP00000349297.5:n.1828-3C>G
ENST00000322910.9:c.*1783-3C>G	ENSP00000325395.5:n.*1783-3C>G
ENST00000350303.9:c.1762-3C>G	ENSP00000344152.5:n.1762-3C>G
ENST00000356839.9:c.1828-3C>G	ENSP00000349297.5:n.1828-3C>G
ENST00000542255.6:c.707-3C>G
ENST00000543245.6:c.1897-3C>G	ENSP00000438689.2:n.1897-3C>G
ENST00000578033.1:n.253-3C>G
ENST00000578319.5:n.409-3C>G
ENST00000578711.1:n.1450C>G
ENST00000578809.5:n.400-3C>G
ENST00000579425.5:n.944-3C>G
ENST00000579546.1:c.563-3C>G
ENST00000583848.5:c.194-3C>G	ENSP00000466487.1:n.194-3C>G
ENST00000583850.5:n.599-3C>G
ENST00000583858.5:c.759-3C>G
NM_000018.3:c.1828-3C>G	NP_000009.1:n.1828-3C>G
NM_001033859.2:c.1762-3C>G	NP_001029031.1:n.1762-3C>G
NM_001270447.1:c.1897-3C>G	NP_001257376.1:n.1897-3C>G
NM_001270448.1:c.1600-3C>G	NP_001257377.1:n.1600-3C>G
XM_006721516.2:c.1849-3C>G	XP_006721579.2:n.1849-3C>G
XM_011523829.1:c.1747-3C>G	XP_011522131.1:n.1747-3C>G
XM_011523830.1:c.1726-3C>G	XP_011522132.1:n.1726-3C>G
XR_934021.1:n.1931-3C>G
XR_934022.1:n.1837-3C>G
XR_934023.1:n.1858-3C>G
XM_006721516.3:c.1849-3C>G	XP_006721579.2:n.1849-3C>G
XM_011523829.2:c.1747-3C>G	XP_011522131.1:n.1747-3C>G
XM_011523830.2:c.1726-3C>G	XP_011522132.1:n.1726-3C>G
XM_024450741.1:c.1816-3C>G	XP_024306509.1:n.1816-3C>G
XR_934021.2:n.1883-3C>G
XR_934022.2:n.1789-3C>G
XR_934023.2:n.1810-3C>G
NM_000018.4:c.1828-3C>G MANE Select	NP_000009.1:n.1828-3C>G
NM_001033859.3:c.1762-3C>G	NP_001029031.1:n.1762-3C>G
NM_001270447.2:c.1897-3C>G	NP_001257376.1:n.1897-3C>G
NM_001270448.2:c.1600-3C>G	NP_001257377.1:n.1600-3C>G