Canonical Allele Identifier: CA397722781

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124280T>C (hg19) ; chr17:g.7220961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220961T>C , CM000679.2:g.7220961T>C	GRCh38
NC_000017.10:g.7124280T>C , CM000679.1:g.7124280T>C	GRCh37
NC_000017.9:g.7065004T>C	NCBI36
NG_007975.1:g.6128T>C
NG_008391.2:g.4090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.380T>C MANE Select	ENSP00000349297.5:p.Met127Thr
ENST00000322910.9:c.*335T>C	ENSP00000325395.5:n.*335T>C
ENST00000350303.9:c.314T>C	ENSP00000344152.5:p.Met105Thr
ENST00000356839.9:c.380T>C	ENSP00000349297.5:p.Met127Thr
ENST00000543245.6:c.449T>C	ENSP00000438689.2:p.Met150Thr
ENST00000577191.5:n.457T>C
ENST00000577433.5:n.588T>C
ENST00000577857.5:n.293+131T>C
ENST00000579286.5:n.561T>C
ENST00000579886.2:c.218T>C	ENSP00000463246.1:p.Met73Thr
ENST00000580365.1:n.111T>C
ENST00000581378.5:c.79T>C
ENST00000581562.5:n.427T>C
ENST00000582056.5:n.563T>C
ENST00000582166.1:n.361T>C
ENST00000583312.5:c.380T>C	ENSP00000467920.1:p.Met127Thr
ENST00000584103.5:c.413T>C	ENSP00000465353.1:p.Met138Thr
NM_000018.3:c.380T>C	NP_000009.1:p.Met127Thr
NM_001033859.2:c.314T>C	NP_001029031.1:p.Met105Thr
NM_001270447.1:c.449T>C	NP_001257376.1:p.Met150Thr
NM_001270448.1:c.152T>C	NP_001257377.1:p.Met51Thr
XM_006721516.2:c.380T>C	XP_006721579.2:p.Met127Thr
XM_011523829.1:c.380T>C	XP_011522131.1:p.Met127Thr
XM_011523830.1:c.380T>C	XP_011522132.1:p.Met127Thr
XR_934021.1:n.487T>C
XR_934022.1:n.487T>C
XR_934023.1:n.487T>C
XM_006721516.3:c.380T>C	XP_006721579.2:p.Met127Thr
XM_011523829.2:c.380T>C	XP_011522131.1:p.Met127Thr
XM_011523830.2:c.380T>C	XP_011522132.1:p.Met127Thr
XM_024450741.1:c.380T>C	XP_024306509.1:p.Met127Thr
XR_934021.2:n.439T>C
XR_934022.2:n.439T>C
XR_934023.2:n.439T>C
NM_000018.4:c.380T>C MANE Select	NP_000009.1:p.Met127Thr
NM_001033859.3:c.314T>C	NP_001029031.1:p.Met105Thr
NM_001270447.2:c.449T>C	NP_001257376.1:p.Met150Thr
NM_001270448.2:c.152T>C	NP_001257377.1:p.Met51Thr