Canonical Allele Identifier: CA16040766

Gene: CPT2

Linked Data

• ClinVar Variation Id: 371775
• ClinVar RCV Id: RCV000409771 ; RCV000410775 ; RCV000412327 ; RCV000801602
• dbSNP Id: rs1057517525
• MyVariant Identifiers: chr1:g.53676691delinsTA (hg19) ; chr1:g.53211019delinsTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211019delinsTA , CM000663.2:g.53211019delinsTA	GRCh38
NC_000001.10:g.53676691delinsTA , CM000663.1:g.53676691delinsTA	GRCh37
NC_000001.9:g.53449279delinsTA	NCBI36
NG_008035.1:g.19591delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1345delinsTA MANE Select	ENSP00000360541.3:p.Gln449Ter
ENST00000635862.1:c.1345delinsTA	ENSP00000490867.1:p.Gln449Ter
ENST00000635888.1:c.*1331delinsTA	ENSP00000490042.1:n.*1331delinsTA
ENST00000636239.1:c.*992delinsTA	ENSP00000490066.1:n.*992delinsTA
ENST00000636867.1:c.1345delinsTA	ENSP00000489631.1:p.Gln449Ter
ENST00000636891.1:c.1345delinsTA	ENSP00000490399.1:p.Gln449Ter
ENST00000636935.1:c.341-2245delinsTA	ENSP00000489757.1:n.341-2245delinsTA
ENST00000637252.1:c.1345delinsTA	ENSP00000490492.1:p.Gln449Ter
ENST00000637726.1:n.3545delinsTA
ENST00000638135.1:c.*992delinsTA	ENSP00000489756.1:n.*992delinsTA
ENST00000371486.3:c.1345delinsTA	ENSP00000360541.3:p.Gln449Ter
NM_000098.2:c.1345delinsTA	NP_000089.1:p.Gln449Ter
XM_005270484.1:c.1345delinsTA	XP_005270541.1:p.Gln449Ter
NM_001330589.1:c.1345delinsTA	NP_001317518.1:p.Gln449Ter
NM_000098.3:c.1345delinsTA MANE Select	NP_000089.1:p.Gln449Ter
NM_001330589.2:c.1345delinsTA	NP_001317518.1:p.Gln449Ter