Canonical Allele Identifier: CA397723003

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124860G>C (hg19) ; chr17:g.7221541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221541G>C , CM000679.2:g.7221541G>C	GRCh38
NC_000017.10:g.7124860G>C , CM000679.1:g.7124860G>C	GRCh37
NC_000017.9:g.7065584G>C	NCBI36
NG_007975.1:g.6708G>C
NG_008391.2:g.3510C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.481G>C MANE Select	ENSP00000349297.5:p.Ala161Pro
ENST00000322910.9:c.*436G>C	ENSP00000325395.5:n.*436G>C
ENST00000350303.9:c.415G>C	ENSP00000344152.5:p.Ala139Pro
ENST00000356839.9:c.481G>C	ENSP00000349297.5:p.Ala161Pro
ENST00000543245.6:c.550G>C	ENSP00000438689.2:p.Ala184Pro
ENST00000577191.5:n.558G>C
ENST00000577433.5:n.689G>C
ENST00000577857.5:n.297G>C
ENST00000579286.5:n.662G>C
ENST00000579886.2:c.319G>C	ENSP00000463246.1:p.Ala107Pro
ENST00000580365.1:n.212G>C
ENST00000581378.5:c.199G>C
ENST00000581562.5:n.525-411G>C
ENST00000582166.1:n.462G>C
ENST00000583312.5:c.481G>C	ENSP00000467920.1:p.Ala161Pro
ENST00000583760.1:n.263G>C
NM_000018.3:c.481G>C	NP_000009.1:p.Ala161Pro
NM_001033859.2:c.415G>C	NP_001029031.1:p.Ala139Pro
NM_001270447.1:c.550G>C	NP_001257376.1:p.Ala184Pro
NM_001270448.1:c.253G>C	NP_001257377.1:p.Ala85Pro
XM_006721516.2:c.481G>C	XP_006721579.2:p.Ala161Pro
XM_011523829.1:c.481G>C	XP_011522131.1:p.Ala161Pro
XM_011523830.1:c.481G>C	XP_011522132.1:p.Ala161Pro
XR_934021.1:n.588G>C
XR_934022.1:n.588G>C
XR_934023.1:n.588G>C
XM_006721516.3:c.481G>C	XP_006721579.2:p.Ala161Pro
XM_011523829.2:c.481G>C	XP_011522131.1:p.Ala161Pro
XM_011523830.2:c.481G>C	XP_011522132.1:p.Ala161Pro
XM_024450741.1:c.481G>C	XP_024306509.1:p.Ala161Pro
XR_934021.2:n.540G>C
XR_934022.2:n.540G>C
XR_934023.2:n.540G>C
NM_000018.4:c.481G>C MANE Select	NP_000009.1:p.Ala161Pro
NM_001033859.3:c.415G>C	NP_001029031.1:p.Ala139Pro
NM_001270447.2:c.550G>C	NP_001257376.1:p.Ala184Pro
NM_001270448.2:c.253G>C	NP_001257377.1:p.Ala85Pro