Canonical Allele Identifier: CA287436041

Gene: ACADVL

Linked Data

• dbSNP Id: rs80162838
• gnomAD v2: 17-7124756-A-C
• gnomAD v3: 17-7221437-A-C
• gnomAD v4: 17-7221437-A-C
• COSMIC: COSN19617954 ; COSN19641082 ; COSN20278507 ; COSN20279721
• MyVariant Identifiers: chr17:g.7124756A>C (hg19) ; chr17:g.7221437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221437A>C , CM000679.2:g.7221437A>C	GRCh38
NC_000017.10:g.7124756A>C , CM000679.1:g.7124756A>C	GRCh37
NC_000017.9:g.7065480A>C	NCBI36
NG_007975.1:g.6604A>C
NG_008391.2:g.3614T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-101A>C MANE Select	ENSP00000349297.5:n.478-101A>C
ENST00000322910.9:c.*433-101A>C	ENSP00000325395.5:n.*433-101A>C
ENST00000350303.9:c.412-101A>C	ENSP00000344152.5:n.412-101A>C
ENST00000356839.9:c.478-101A>C	ENSP00000349297.5:n.478-101A>C
ENST00000543245.6:c.547-101A>C	ENSP00000438689.2:n.547-101A>C
ENST00000577191.5:n.555-101A>C
ENST00000577433.5:n.686-101A>C
ENST00000577857.5:n.294-101A>C
ENST00000579286.5:n.659-101A>C
ENST00000579886.2:c.316-101A>C	ENSP00000463246.1:n.316-101A>C
ENST00000580365.1:n.209-101A>C
ENST00000581378.5:c.177-82A>C
ENST00000581562.5:n.524+379A>C
ENST00000582166.1:n.459-101A>C
ENST00000583312.5:c.478-101A>C	ENSP00000467920.1:n.478-101A>C
ENST00000583760.1:n.159A>C
NM_000018.3:c.478-101A>C	NP_000009.1:n.478-101A>C
NM_001033859.2:c.412-101A>C	NP_001029031.1:n.412-101A>C
NM_001270447.1:c.547-101A>C	NP_001257376.1:n.547-101A>C
NM_001270448.1:c.250-101A>C	NP_001257377.1:n.250-101A>C
XM_006721516.2:c.478-101A>C	XP_006721579.2:n.478-101A>C
XM_011523829.1:c.478-101A>C	XP_011522131.1:n.478-101A>C
XM_011523830.1:c.478-101A>C	XP_011522132.1:n.478-101A>C
XR_934021.1:n.585-101A>C
XR_934022.1:n.585-101A>C
XR_934023.1:n.585-101A>C
XM_006721516.3:c.478-101A>C	XP_006721579.2:n.478-101A>C
XM_011523829.2:c.478-101A>C	XP_011522131.1:n.478-101A>C
XM_011523830.2:c.478-101A>C	XP_011522132.1:n.478-101A>C
XM_024450741.1:c.478-101A>C	XP_024306509.1:n.478-101A>C
XR_934021.2:n.537-101A>C
XR_934022.2:n.537-101A>C
XR_934023.2:n.537-101A>C
NM_000018.4:c.478-101A>C MANE Select	NP_000009.1:n.478-101A>C
NM_001033859.3:c.412-101A>C	NP_001029031.1:n.412-101A>C
NM_001270447.2:c.547-101A>C	NP_001257376.1:n.547-101A>C
NM_001270448.2:c.250-101A>C	NP_001257377.1:n.250-101A>C