Canonical Allele Identifier: CA8338250

Gene: ACADVL

Linked Data

• dbSNP Id: rs548102782
• ExAC: 17:7128091 C / T
• gnomAD v2: 17-7128091-C-T
• gnomAD v3: 17-7224772-C-T
• gnomAD v4: 17-7224772-C-T
• MyVariant Identifiers: chr17:g.7128091C>T (hg19) ; chr17:g.7224772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224772C>T , CM000679.2:g.7224772C>T	GRCh38
NC_000017.10:g.7128091C>T , CM000679.1:g.7128091C>T	GRCh37
NC_000017.9:g.7068815C>T	NCBI36
NG_007975.1:g.9939C>T
NG_008391.2:g.279G>A
NG_033038.1:g.14773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1752-37C>T MANE Select	ENSP00000349297.5:n.1752-37C>T
ENST00000322910.9:c.*1707-37C>T	ENSP00000325395.5:n.*1707-37C>T
ENST00000350303.9:c.1686-37C>T	ENSP00000344152.5:n.1686-37C>T
ENST00000356839.9:c.1752-37C>T	ENSP00000349297.5:n.1752-37C>T
ENST00000542255.6:c.594C>T
ENST00000543245.6:c.1821-37C>T	ENSP00000438689.2:n.1821-37C>T
ENST00000578033.1:n.140C>T
ENST00000578319.5:n.333-37C>T
ENST00000578711.1:n.1268C>T
ENST00000578809.5:n.324-37C>T
ENST00000579425.5:n.868-37C>T
ENST00000579546.1:c.487-37C>T
ENST00000583074.5:n.357C>T
ENST00000583848.5:c.118-37C>T	ENSP00000466487.1:n.118-37C>T
ENST00000583850.5:n.523-37C>T
ENST00000583858.5:c.683-37C>T
ENST00000585203.6:n.943-37C>T
NM_000018.3:c.1752-37C>T	NP_000009.1:n.1752-37C>T
NM_001033859.2:c.1686-37C>T	NP_001029031.1:n.1686-37C>T
NM_001270447.1:c.1821-37C>T	NP_001257376.1:n.1821-37C>T
NM_001270448.1:c.1524-37C>T	NP_001257377.1:n.1524-37C>T
XM_006721516.2:c.1736C>T	XP_006721579.2:p.Pro579Leu
XM_011523829.1:c.1634C>T	XP_011522131.1:p.Pro545Leu
XM_011523830.1:c.1650-37C>T	XP_011522132.1:n.1650-37C>T
XR_934021.1:n.1855-37C>T
XR_934022.1:n.1761-37C>T
XR_934023.1:n.1745C>T
XM_006721516.3:c.1736C>T	XP_006721579.2:p.Pro579Leu
XM_011523829.2:c.1634C>T	XP_011522131.1:p.Pro545Leu
XM_011523830.2:c.1650-37C>T	XP_011522132.1:n.1650-37C>T
XM_024450741.1:c.1740-37C>T	XP_024306509.1:n.1740-37C>T
XR_934021.2:n.1807-37C>T
XR_934022.2:n.1713-37C>T
XR_934023.2:n.1697C>T
NM_000018.4:c.1752-37C>T MANE Select	NP_000009.1:n.1752-37C>T
NM_001033859.3:c.1686-37C>T	NP_001029031.1:n.1686-37C>T
NM_001270447.2:c.1821-37C>T	NP_001257376.1:n.1821-37C>T
NM_001270448.2:c.1524-37C>T	NP_001257377.1:n.1524-37C>T