Canonical Allele Identifier: CA8338286

Gene: ACADVL

Linked Data

• dbSNP Id: rs749054392
• ExAC: 17:7128255 C / T
• gnomAD v2: 17-7128255-C-T
• gnomAD v3: 17-7224936-C-T
• gnomAD v4: 17-7224936-C-T
• MyVariant Identifiers: chr17:g.7128255C>T (hg19) ; chr17:g.7224936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224936C>T , CM000679.2:g.7224936C>T	GRCh38
NC_000017.10:g.7128255C>T , CM000679.1:g.7128255C>T	GRCh37
NC_000017.9:g.7068979C>T	NCBI36
NG_007975.1:g.10103C>T
NG_008391.2:g.115G>A
NG_033038.1:g.14609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1828-21C>T MANE Select	ENSP00000349297.5:n.1828-21C>T
ENST00000322910.9:c.*1783-21C>T	ENSP00000325395.5:n.*1783-21C>T
ENST00000350303.9:c.1762-21C>T	ENSP00000344152.5:n.1762-21C>T
ENST00000356839.9:c.1828-21C>T	ENSP00000349297.5:n.1828-21C>T
ENST00000542255.6:c.707-21C>T
ENST00000543245.6:c.1897-21C>T	ENSP00000438689.2:n.1897-21C>T
ENST00000578033.1:n.253-21C>T
ENST00000578319.5:n.409-21C>T
ENST00000578711.1:n.1432C>T
ENST00000578809.5:n.400-21C>T
ENST00000579425.5:n.944-21C>T
ENST00000579546.1:c.563-21C>T
ENST00000583848.5:c.194-21C>T	ENSP00000466487.1:n.194-21C>T
ENST00000583850.5:n.599-21C>T
ENST00000583858.5:c.759-21C>T
NM_000018.3:c.1828-21C>T	NP_000009.1:n.1828-21C>T
NM_001033859.2:c.1762-21C>T	NP_001029031.1:n.1762-21C>T
NM_001270447.1:c.1897-21C>T	NP_001257376.1:n.1897-21C>T
NM_001270448.1:c.1600-21C>T	NP_001257377.1:n.1600-21C>T
XM_006721516.2:c.1849-21C>T	XP_006721579.2:n.1849-21C>T
XM_011523829.1:c.1747-21C>T	XP_011522131.1:n.1747-21C>T
XM_011523830.1:c.1726-21C>T	XP_011522132.1:n.1726-21C>T
XR_934021.1:n.1931-21C>T
XR_934022.1:n.1837-21C>T
XR_934023.1:n.1858-21C>T
XM_006721516.3:c.1849-21C>T	XP_006721579.2:n.1849-21C>T
XM_011523829.2:c.1747-21C>T	XP_011522131.1:n.1747-21C>T
XM_011523830.2:c.1726-21C>T	XP_011522132.1:n.1726-21C>T
XM_024450741.1:c.1816-21C>T	XP_024306509.1:n.1816-21C>T
XR_934021.2:n.1883-21C>T
XR_934022.2:n.1789-21C>T
XR_934023.2:n.1810-21C>T
NM_000018.4:c.1828-21C>T MANE Select	NP_000009.1:n.1828-21C>T
NM_001033859.3:c.1762-21C>T	NP_001029031.1:n.1762-21C>T
NM_001270447.2:c.1897-21C>T	NP_001257376.1:n.1897-21C>T
NM_001270448.2:c.1600-21C>T	NP_001257377.1:n.1600-21C>T