Canonical Allele Identifier: CA340392673

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53675906C>A (hg19) ; chr1:g.53210234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210234C>A , CM000663.2:g.53210234C>A	GRCh38
NC_000001.10:g.53675906C>A , CM000663.1:g.53675906C>A	GRCh37
NC_000001.9:g.53448494C>A	NCBI36
NG_008035.1:g.18806C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.560C>A MANE Select	ENSP00000360541.3:p.Thr187Asn
ENST00000635862.1:c.560C>A	ENSP00000490867.1:p.Thr187Asn
ENST00000635888.1:c.*546C>A	ENSP00000490042.1:n.*546C>A
ENST00000636239.1:c.*207C>A	ENSP00000490066.1:n.*207C>A
ENST00000636867.1:c.560C>A	ENSP00000489631.1:p.Thr187Asn
ENST00000636891.1:c.560C>A	ENSP00000490399.1:p.Thr187Asn
ENST00000636935.1:c.341-3030C>A	ENSP00000489757.1:n.341-3030C>A
ENST00000637252.1:c.560C>A	ENSP00000490492.1:p.Thr187Asn
ENST00000637726.1:n.2760C>A
ENST00000638135.1:c.*207C>A	ENSP00000489756.1:n.*207C>A
ENST00000371486.3:c.560C>A	ENSP00000360541.3:p.Thr187Asn
NM_000098.2:c.560C>A	NP_000089.1:p.Thr187Asn
XM_005270484.1:c.560C>A	XP_005270541.1:p.Thr187Asn
NM_001330589.1:c.560C>A	NP_001317518.1:p.Thr187Asn
NM_000098.3:c.560C>A MANE Select	NP_000089.1:p.Thr187Asn
NM_001330589.2:c.560C>A	NP_001317518.1:p.Thr187Asn