Canonical Allele Identifier: CA287433861

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2170542
• ClinVar RCV Id: RCV003088632
• dbSNP Id: rs987306490
• MyVariant Identifiers: chr17:g.7123486C>T (hg19) ; chr17:g.7220167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220167C>T , CM000679.2:g.7220167C>T	GRCh38
NC_000017.10:g.7123486C>T , CM000679.1:g.7123486C>T	GRCh37
NC_000017.9:g.7064210C>T	NCBI36
NG_007975.1:g.5334C>T
NG_008391.2:g.4884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.108C>T MANE Select	ENSP00000349297.5:p.Ala36=
ENST00000322910.9:c.*63C>T	ENSP00000325395.5:n.*63C>T
ENST00000350303.9:c.108C>T	ENSP00000344152.5:p.Ala36=
ENST00000356839.9:c.108C>T	ENSP00000349297.5:p.Ala36=
ENST00000543245.6:c.177C>T	ENSP00000438689.2:p.Ala59=
ENST00000577191.5:n.185C>T
ENST00000577857.5:n.198C>T
ENST00000578269.5:n.215C>T
ENST00000578421.1:n.242C>T
ENST00000579286.5:n.215C>T
ENST00000579886.2:c.108C>T	ENSP00000463246.1:p.Ala36=
ENST00000580263.5:n.198C>T
ENST00000581562.5:n.155C>T
ENST00000582056.5:n.198C>T
ENST00000582356.5:n.233C>T
ENST00000583312.5:c.108C>T	ENSP00000467920.1:p.Ala36=
ENST00000584103.5:c.108C>T	ENSP00000465353.1:p.Ala36=
NM_000018.3:c.108C>T	NP_000009.1:p.Ala36=
NM_001033859.2:c.108C>T	NP_001029031.1:p.Ala36=
NM_001270447.1:c.177C>T	NP_001257376.1:p.Ala59=
NM_001270448.1:c.-121C>T	NP_001257377.1:n.-121C>T
XM_006721516.2:c.108C>T	XP_006721579.2:p.Ala36=
XM_011523829.1:c.108C>T	XP_011522131.1:p.Ala36=
XM_011523830.1:c.108C>T	XP_011522132.1:p.Ala36=
XR_934021.1:n.215C>T
XR_934022.1:n.215C>T
XR_934023.1:n.215C>T
XM_006721516.3:c.108C>T	XP_006721579.2:p.Ala36=
XM_011523829.2:c.108C>T	XP_011522131.1:p.Ala36=
XM_011523830.2:c.108C>T	XP_011522132.1:p.Ala36=
XM_024450741.1:c.108C>T	XP_024306509.1:p.Ala36=
XR_934021.2:n.167C>T
XR_934022.2:n.167C>T
XR_934023.2:n.167C>T
NM_000018.4:c.108C>T MANE Select	NP_000009.1:p.Ala36=
NM_001033859.3:c.108C>T	NP_001029031.1:p.Ala36=
NM_001270447.2:c.177C>T	NP_001257376.1:p.Ala59=
NM_001270448.2:c.-121C>T	NP_001257377.1:n.-121C>T