Canonical Allele Identifier: CA397723030

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124875A>C (hg19) ; chr17:g.7221556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221556A>C , CM000679.2:g.7221556A>C	GRCh38
NC_000017.10:g.7124875A>C , CM000679.1:g.7124875A>C	GRCh37
NC_000017.9:g.7065599A>C	NCBI36
NG_007975.1:g.6723A>C
NG_008391.2:g.3495T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.496A>C MANE Select	ENSP00000349297.5:p.Ile166Leu
ENST00000322910.9:c.*451A>C	ENSP00000325395.5:n.*451A>C
ENST00000350303.9:c.430A>C	ENSP00000344152.5:p.Ile144Leu
ENST00000356839.9:c.496A>C	ENSP00000349297.5:p.Ile166Leu
ENST00000543245.6:c.565A>C	ENSP00000438689.2:p.Ile189Leu
ENST00000577191.5:n.573A>C
ENST00000577433.5:n.704A>C
ENST00000577857.5:n.312A>C
ENST00000579286.5:n.677A>C
ENST00000579886.2:c.334A>C	ENSP00000463246.1:p.Ile112Leu
ENST00000580365.1:n.227A>C
ENST00000581378.5:c.214A>C
ENST00000581562.5:n.525-396A>C
ENST00000582166.1:n.477A>C
ENST00000583312.5:c.496A>C	ENSP00000467920.1:p.Ile166Leu
ENST00000583760.1:n.278A>C
NM_000018.3:c.496A>C	NP_000009.1:p.Ile166Leu
NM_001033859.2:c.430A>C	NP_001029031.1:p.Ile144Leu
NM_001270447.1:c.565A>C	NP_001257376.1:p.Ile189Leu
NM_001270448.1:c.268A>C	NP_001257377.1:p.Ile90Leu
XM_006721516.2:c.496A>C	XP_006721579.2:p.Ile166Leu
XM_011523829.1:c.496A>C	XP_011522131.1:p.Ile166Leu
XM_011523830.1:c.496A>C	XP_011522132.1:p.Ile166Leu
XR_934021.1:n.603A>C
XR_934022.1:n.603A>C
XR_934023.1:n.603A>C
XM_006721516.3:c.496A>C	XP_006721579.2:p.Ile166Leu
XM_011523829.2:c.496A>C	XP_011522131.1:p.Ile166Leu
XM_011523830.2:c.496A>C	XP_011522132.1:p.Ile166Leu
XM_024450741.1:c.496A>C	XP_024306509.1:p.Ile166Leu
XR_934021.2:n.555A>C
XR_934022.2:n.555A>C
XR_934023.2:n.555A>C
NM_000018.4:c.496A>C MANE Select	NP_000009.1:p.Ile166Leu
NM_001033859.3:c.430A>C	NP_001029031.1:p.Ile144Leu
NM_001270447.2:c.565A>C	NP_001257376.1:p.Ile189Leu
NM_001270448.2:c.268A>C	NP_001257377.1:p.Ile90Leu