Canonical Allele Identifier: CA397722916

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124345G>C (hg19) ; chr17:g.7221026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221026G>C , CM000679.2:g.7221026G>C	GRCh38
NC_000017.10:g.7124345G>C , CM000679.1:g.7124345G>C	GRCh37
NC_000017.9:g.7065069G>C	NCBI36
NG_007975.1:g.6193G>C
NG_008391.2:g.4025C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.445G>C MANE Select	ENSP00000349297.5:p.Glu149Gln
ENST00000322910.9:c.*400G>C	ENSP00000325395.5:n.*400G>C
ENST00000350303.9:c.379G>C	ENSP00000344152.5:p.Glu127Gln
ENST00000356839.9:c.445G>C	ENSP00000349297.5:p.Glu149Gln
ENST00000543245.6:c.514G>C	ENSP00000438689.2:p.Glu172Gln
ENST00000577191.5:n.522G>C
ENST00000577433.5:n.653G>C
ENST00000577857.5:n.293+196G>C
ENST00000579286.5:n.626G>C
ENST00000579886.2:c.283G>C	ENSP00000463246.1:p.Glu95Gln
ENST00000580365.1:n.176G>C
ENST00000581378.5:c.144G>C
ENST00000581562.5:n.492G>C
ENST00000582056.5:n.628G>C
ENST00000582166.1:n.426G>C
ENST00000583312.5:c.445G>C	ENSP00000467920.1:p.Glu149Gln
NM_000018.3:c.445G>C	NP_000009.1:p.Glu149Gln
NM_001033859.2:c.379G>C	NP_001029031.1:p.Glu127Gln
NM_001270447.1:c.514G>C	NP_001257376.1:p.Glu172Gln
NM_001270448.1:c.217G>C	NP_001257377.1:p.Glu73Gln
XM_006721516.2:c.445G>C	XP_006721579.2:p.Glu149Gln
XM_011523829.1:c.445G>C	XP_011522131.1:p.Glu149Gln
XM_011523830.1:c.445G>C	XP_011522132.1:p.Glu149Gln
XR_934021.1:n.552G>C
XR_934022.1:n.552G>C
XR_934023.1:n.552G>C
XM_006721516.3:c.445G>C	XP_006721579.2:p.Glu149Gln
XM_011523829.2:c.445G>C	XP_011522131.1:p.Glu149Gln
XM_011523830.2:c.445G>C	XP_011522132.1:p.Glu149Gln
XM_024450741.1:c.445G>C	XP_024306509.1:p.Glu149Gln
XR_934021.2:n.504G>C
XR_934022.2:n.504G>C
XR_934023.2:n.504G>C
NM_000018.4:c.445G>C MANE Select	NP_000009.1:p.Glu149Gln
NM_001033859.3:c.379G>C	NP_001029031.1:p.Glu127Gln
NM_001270447.2:c.514G>C	NP_001257376.1:p.Glu172Gln
NM_001270448.2:c.217G>C	NP_001257377.1:p.Glu73Gln