Canonical Allele Identifier: CA340392451

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1486923
• ClinVar RCV Id: RCV002497967 ; RCV002033420 ; RCV003453926 ; RCV003453925 ; RCV003456268 ; RCV003453924
• dbSNP Id: rs28936674
• MyVariant Identifiers: chr1:g.53675866G>C (hg19) ; chr1:g.53210194G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210194G>C , CM000663.2:g.53210194G>C	GRCh38
NC_000001.10:g.53675866G>C , CM000663.1:g.53675866G>C	GRCh37
NC_000001.9:g.53448454G>C	NCBI36
NG_008035.1:g.18766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.520G>C MANE Select	ENSP00000360541.3:p.Glu174Gln
ENST00000635862.1:c.520G>C	ENSP00000490867.1:p.Glu174Gln
ENST00000635888.1:c.*506G>C	ENSP00000490042.1:n.*506G>C
ENST00000636239.1:c.*167G>C	ENSP00000490066.1:n.*167G>C
ENST00000636867.1:c.520G>C	ENSP00000489631.1:p.Glu174Gln
ENST00000636891.1:c.520G>C	ENSP00000490399.1:p.Glu174Gln
ENST00000636935.1:c.341-3070G>C	ENSP00000489757.1:n.341-3070G>C
ENST00000637252.1:c.520G>C	ENSP00000490492.1:p.Glu174Gln
ENST00000637726.1:n.2720G>C
ENST00000638135.1:c.*167G>C	ENSP00000489756.1:n.*167G>C
ENST00000371486.3:c.520G>C	ENSP00000360541.3:p.Glu174Gln
NM_000098.2:c.520G>C	NP_000089.1:p.Glu174Gln
XM_005270484.1:c.520G>C	XP_005270541.1:p.Glu174Gln
NM_001330589.1:c.520G>C	NP_001317518.1:p.Glu174Gln
NM_000098.3:c.520G>C MANE Select	NP_000089.1:p.Glu174Gln
NM_001330589.2:c.520G>C	NP_001317518.1:p.Glu174Gln