Canonical Allele Identifier: CA397723205

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124959A>C (hg19) ; chr17:g.7221640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221640A>C , CM000679.2:g.7221640A>C	GRCh38
NC_000017.10:g.7124959A>C , CM000679.1:g.7124959A>C	GRCh37
NC_000017.9:g.7065683A>C	NCBI36
NG_007975.1:g.6807A>C
NG_008391.2:g.3411T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.580A>C MANE Select	ENSP00000349297.5:p.Thr194Pro
ENST00000322910.9:c.*535A>C	ENSP00000325395.5:n.*535A>C
ENST00000350303.9:c.514A>C	ENSP00000344152.5:p.Thr172Pro
ENST00000356839.9:c.580A>C	ENSP00000349297.5:p.Thr194Pro
ENST00000543245.6:c.649A>C	ENSP00000438689.2:p.Thr217Pro
ENST00000577191.5:n.657A>C
ENST00000577433.5:n.788A>C
ENST00000577857.5:n.396A>C
ENST00000579286.5:n.761A>C
ENST00000579886.2:c.418A>C	ENSP00000463246.1:p.Thr140Pro
ENST00000580365.1:n.311A>C
ENST00000581378.5:c.298A>C
ENST00000581562.5:n.525-312A>C
ENST00000583312.5:c.580A>C	ENSP00000467920.1:p.Thr194Pro
ENST00000583760.1:n.362A>C
NM_000018.3:c.580A>C	NP_000009.1:p.Thr194Pro
NM_001033859.2:c.514A>C	NP_001029031.1:p.Thr172Pro
NM_001270447.1:c.649A>C	NP_001257376.1:p.Thr217Pro
NM_001270448.1:c.352A>C	NP_001257377.1:p.Thr118Pro
XM_006721516.2:c.580A>C	XP_006721579.2:p.Thr194Pro
XM_011523829.1:c.580A>C	XP_011522131.1:p.Thr194Pro
XM_011523830.1:c.580A>C	XP_011522132.1:p.Thr194Pro
XR_934021.1:n.687A>C
XR_934022.1:n.687A>C
XR_934023.1:n.687A>C
XM_006721516.3:c.580A>C	XP_006721579.2:p.Thr194Pro
XM_011523829.2:c.580A>C	XP_011522131.1:p.Thr194Pro
XM_011523830.2:c.580A>C	XP_011522132.1:p.Thr194Pro
XM_024450741.1:c.580A>C	XP_024306509.1:p.Thr194Pro
XR_934021.2:n.639A>C
XR_934022.2:n.639A>C
XR_934023.2:n.639A>C
NM_000018.4:c.580A>C MANE Select	NP_000009.1:p.Thr194Pro
NM_001033859.3:c.514A>C	NP_001029031.1:p.Thr172Pro
NM_001270447.2:c.649A>C	NP_001257376.1:p.Thr217Pro
NM_001270448.2:c.352A>C	NP_001257377.1:p.Thr118Pro