Canonical Allele Identifier: CA397722540

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124109T>C (hg19) ; chr17:g.7220790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220790T>C , CM000679.2:g.7220790T>C	GRCh38
NC_000017.10:g.7124109T>C , CM000679.1:g.7124109T>C	GRCh37
NC_000017.9:g.7064833T>C	NCBI36
NG_007975.1:g.5957T>C
NG_008391.2:g.4261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.302T>C MANE Select	ENSP00000349297.5:p.Phe101Ser
ENST00000322910.9:c.*257T>C	ENSP00000325395.5:n.*257T>C
ENST00000350303.9:c.236T>C	ENSP00000344152.5:p.Phe79Ser
ENST00000356839.9:c.302T>C	ENSP00000349297.5:p.Phe101Ser
ENST00000543245.6:c.371T>C	ENSP00000438689.2:p.Phe124Ser
ENST00000577191.5:n.379T>C
ENST00000577433.5:n.510T>C
ENST00000577857.5:n.253T>C
ENST00000579286.5:n.483T>C
ENST00000579886.2:c.202-155T>C	ENSP00000463246.1:n.202-155T>C
ENST00000580365.1:n.33T>C
ENST00000581378.5:c.1T>C
ENST00000581562.5:n.349T>C
ENST00000582056.5:n.392T>C
ENST00000582166.1:n.190T>C
ENST00000582356.5:n.501T>C
ENST00000583312.5:c.302T>C	ENSP00000467920.1:p.Phe101Ser
ENST00000584103.5:c.302T>C	ENSP00000465353.1:p.Phe101Ser
NM_000018.3:c.302T>C	NP_000009.1:p.Phe101Ser
NM_001033859.2:c.236T>C	NP_001029031.1:p.Phe79Ser
NM_001270447.1:c.371T>C	NP_001257376.1:p.Phe124Ser
NM_001270448.1:c.74T>C	NP_001257377.1:p.Phe25Ser
XM_006721516.2:c.302T>C	XP_006721579.2:p.Phe101Ser
XM_011523829.1:c.302T>C	XP_011522131.1:p.Phe101Ser
XM_011523830.1:c.302T>C	XP_011522132.1:p.Phe101Ser
XR_934021.1:n.409T>C
XR_934022.1:n.409T>C
XR_934023.1:n.409T>C
XM_006721516.3:c.302T>C	XP_006721579.2:p.Phe101Ser
XM_011523829.2:c.302T>C	XP_011522131.1:p.Phe101Ser
XM_011523830.2:c.302T>C	XP_011522132.1:p.Phe101Ser
XM_024450741.1:c.302T>C	XP_024306509.1:p.Phe101Ser
XR_934021.2:n.361T>C
XR_934022.2:n.361T>C
XR_934023.2:n.361T>C
NM_000018.4:c.302T>C MANE Select	NP_000009.1:p.Phe101Ser
NM_001033859.3:c.236T>C	NP_001029031.1:p.Phe79Ser
NM_001270447.2:c.371T>C	NP_001257376.1:p.Phe124Ser
NM_001270448.2:c.74T>C	NP_001257377.1:p.Phe25Ser