Canonical Allele Identifier: CA8337624

Gene: ACADVL

Linked Data

• dbSNP Id: rs762537169
• ExAC: 17:7124033 G / C
• gnomAD v2: 17-7124033-G-C
• MyVariant Identifiers: chr17:g.7124033G>C (hg19) ; chr17:g.7220714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220714G>C , CM000679.2:g.7220714G>C	GRCh38
NC_000017.10:g.7124033G>C , CM000679.1:g.7124033G>C	GRCh37
NC_000017.9:g.7064757G>C	NCBI36
NG_007975.1:g.5881G>C
NG_008391.2:g.4337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.277+38G>C MANE Select	ENSP00000349297.5:n.277+38G>C
ENST00000322910.9:c.*232+38G>C	ENSP00000325395.5:n.*232+38G>C
ENST00000350303.9:c.211+38G>C	ENSP00000344152.5:n.211+38G>C
ENST00000356839.9:c.277+38G>C	ENSP00000349297.5:n.277+38G>C
ENST00000543245.6:c.346+38G>C	ENSP00000438689.2:n.346+38G>C
ENST00000577191.5:n.354+38G>C
ENST00000577433.5:n.485+38G>C
ENST00000577857.5:n.229-52G>C
ENST00000578421.1:n.523G>C
ENST00000579286.5:n.458+38G>C
ENST00000579886.2:c.201+188G>C	ENSP00000463246.1:n.201+188G>C
ENST00000580263.5:n.479G>C
ENST00000581562.5:n.324+38G>C
ENST00000582056.5:n.367+38G>C
ENST00000582166.1:n.165+38G>C
ENST00000582356.5:n.476+38G>C
ENST00000583312.5:c.277+38G>C	ENSP00000467920.1:n.277+38G>C
ENST00000584103.5:c.277+38G>C	ENSP00000465353.1:n.277+38G>C
NM_000018.3:c.277+38G>C	NP_000009.1:n.277+38G>C
NM_001033859.2:c.211+38G>C	NP_001029031.1:n.211+38G>C
NM_001270447.1:c.346+38G>C	NP_001257376.1:n.346+38G>C
NM_001270448.1:c.49+38G>C	NP_001257377.1:n.49+38G>C
XM_006721516.2:c.277+38G>C	XP_006721579.2:n.277+38G>C
XM_011523829.1:c.277+38G>C	XP_011522131.1:n.277+38G>C
XM_011523830.1:c.277+38G>C	XP_011522132.1:n.277+38G>C
XR_934021.1:n.384+38G>C
XR_934022.1:n.384+38G>C
XR_934023.1:n.384+38G>C
XM_006721516.3:c.277+38G>C	XP_006721579.2:n.277+38G>C
XM_011523829.2:c.277+38G>C	XP_011522131.1:n.277+38G>C
XM_011523830.2:c.277+38G>C	XP_011522132.1:n.277+38G>C
XM_024450741.1:c.277+38G>C	XP_024306509.1:n.277+38G>C
XR_934021.2:n.336+38G>C
XR_934022.2:n.336+38G>C
XR_934023.2:n.336+38G>C
NM_000018.4:c.277+38G>C MANE Select	NP_000009.1:n.277+38G>C
NM_001033859.3:c.211+38G>C	NP_001029031.1:n.211+38G>C
NM_001270447.2:c.346+38G>C	NP_001257376.1:n.346+38G>C
NM_001270448.2:c.49+38G>C	NP_001257377.1:n.49+38G>C