Canonical Allele Identifier: CA8337749

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 956300
• ClinVar RCV Id: RCV001229075 ; RCV004032658
• dbSNP Id: rs757830946
• ExAC: 17:7124898 C / T
• gnomAD v2: 17-7124898-C-T
• gnomAD v4: 17-7221579-C-T
• COSMIC: COSM983823
• MyVariant Identifiers: chr17:g.7124898C>T (hg19) ; chr17:g.7221579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221579C>T , CM000679.2:g.7221579C>T	GRCh38
NC_000017.10:g.7124898C>T , CM000679.1:g.7124898C>T	GRCh37
NC_000017.9:g.7065622C>T	NCBI36
NG_007975.1:g.6746C>T
NG_008391.2:g.3472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.519C>T MANE Select	ENSP00000349297.5:p.Gly173=
ENST00000322910.9:c.*474C>T	ENSP00000325395.5:n.*474C>T
ENST00000350303.9:c.453C>T	ENSP00000344152.5:p.Gly151=
ENST00000356839.9:c.519C>T	ENSP00000349297.5:p.Gly173=
ENST00000543245.6:c.588C>T	ENSP00000438689.2:p.Gly196=
ENST00000577191.5:n.596C>T
ENST00000577433.5:n.727C>T
ENST00000577857.5:n.335C>T
ENST00000579286.5:n.700C>T
ENST00000579886.2:c.357C>T	ENSP00000463246.1:p.Gly119=
ENST00000580365.1:n.250C>T
ENST00000581378.5:c.237C>T
ENST00000581562.5:n.525-373C>T
ENST00000582166.1:n.500C>T
ENST00000583312.5:c.519C>T	ENSP00000467920.1:p.Gly173=
ENST00000583760.1:n.301C>T
NM_000018.3:c.519C>T	NP_000009.1:p.Gly173=
NM_001033859.2:c.453C>T	NP_001029031.1:p.Gly151=
NM_001270447.1:c.588C>T	NP_001257376.1:p.Gly196=
NM_001270448.1:c.291C>T	NP_001257377.1:p.Gly97=
XM_006721516.2:c.519C>T	XP_006721579.2:p.Gly173=
XM_011523829.1:c.519C>T	XP_011522131.1:p.Gly173=
XM_011523830.1:c.519C>T	XP_011522132.1:p.Gly173=
XR_934021.1:n.626C>T
XR_934022.1:n.626C>T
XR_934023.1:n.626C>T
XM_006721516.3:c.519C>T	XP_006721579.2:p.Gly173=
XM_011523829.2:c.519C>T	XP_011522131.1:p.Gly173=
XM_011523830.2:c.519C>T	XP_011522132.1:p.Gly173=
XM_024450741.1:c.519C>T	XP_024306509.1:p.Gly173=
XR_934021.2:n.578C>T
XR_934022.2:n.578C>T
XR_934023.2:n.578C>T
NM_000018.4:c.519C>T MANE Select	NP_000009.1:p.Gly173=
NM_001033859.3:c.453C>T	NP_001029031.1:p.Gly151=
NM_001270447.2:c.588C>T	NP_001257376.1:p.Gly196=
NM_001270448.2:c.291C>T	NP_001257377.1:p.Gly97=