Canonical Allele Identifier: CA16040760

Gene: CPT2

Linked Data

• ClinVar Variation Id: 371757
• ClinVar RCV Id: RCV000409552 ; RCV000411079 ; RCV000412110
• dbSNP Id: rs1057517510
• MyVariant Identifiers: chr1:g.53662669_53662687dup19 (hg19) ; chr1:g.53196997_53197015dup19 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196997_53197015dup , CM000663.2:g.53196997_53197015dup	GRCh38
NC_000001.10:g.53662669_53662687dup , CM000663.1:g.53662669_53662687dup	GRCh37
NC_000001.9:g.53435257_53435275dup	NCBI36
NG_008035.1:g.5569_5587dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.54_72dup MANE Select	ENSP00000360541.3:p.Leu25GlyfsTer?
ENST00000468572.2:n.139_157dup
ENST00000635862.1:c.54_72dup	ENSP00000490867.1:p.Leu25GlyfsTer?
ENST00000635888.1:c.54_72dup	ENSP00000490042.1:p.Leu25GlyfsTer?
ENST00000636239.1:c.54_72dup	ENSP00000490066.1:p.Leu25GlyfsTer?
ENST00000636867.1:c.54_72dup	ENSP00000489631.1:p.Leu25GlyfsTer?
ENST00000636891.1:c.54_72dup	ENSP00000490399.1:p.Leu25GlyfsTer?
ENST00000636935.1:c.54_72dup	ENSP00000489757.1:p.Leu25GlyfsTer?
ENST00000637252.1:c.54_72dup	ENSP00000490492.1:p.Leu25GlyfsTer?
ENST00000638135.1:c.54_72dup	ENSP00000489756.1:p.Leu25GlyfsTer?
ENST00000371486.3:c.54_72dup	ENSP00000360541.3:p.Leu25GlyfsTer?
ENST00000468572.1:n.139_157dup
NM_000098.2:c.54_72dup	NP_000089.1:p.Leu25GlyfsTer?
XM_005270484.1:c.54_72dup	XP_005270541.1:p.Leu25GlyfsTer?
NM_001330589.1:c.54_72dup	NP_001317518.1:p.Leu25GlyfsTer?
NM_000098.3:c.54_72dup MANE Select	NP_000089.1:p.Leu25GlyfsTer?
NM_001330589.2:c.54_72dup	NP_001317518.1:p.Leu25GlyfsTer?