Canonical Allele Identifier: CA16040769

Gene: CPT2

Linked Data

• ClinVar Variation Id: 371764
• ClinVar RCV Id: RCV000409314 ; RCV000410441 ; RCV000411274
• dbSNP Id: rs1057517517
• MyVariant Identifiers: chr1:g.53676960C>A (hg19) ; chr1:g.53211288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211288C>A , CM000663.2:g.53211288C>A	GRCh38
NC_000001.10:g.53676960C>A , CM000663.1:g.53676960C>A	GRCh37
NC_000001.9:g.53449548C>A	NCBI36
NG_008035.1:g.19860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1614C>A MANE Select	ENSP00000360541.3:p.Tyr538Ter
ENST00000635862.1:c.1576+38C>A	ENSP00000490867.1:n.1576+38C>A
ENST00000635888.1:c.*1600C>A	ENSP00000490042.1:n.*1600C>A
ENST00000636239.1:c.*1261C>A	ENSP00000490066.1:n.*1261C>A
ENST00000636867.1:c.1576+38C>A	ENSP00000489631.1:n.1576+38C>A
ENST00000636891.1:c.1614C>A	ENSP00000490399.1:p.Tyr538Ter
ENST00000636935.1:c.341-1976C>A	ENSP00000489757.1:n.341-1976C>A
ENST00000637252.1:c.1614C>A	ENSP00000490492.1:p.Tyr538Ter
ENST00000637726.1:n.3814C>A
ENST00000638135.1:c.*1261C>A	ENSP00000489756.1:n.*1261C>A
ENST00000371486.3:c.1614C>A	ENSP00000360541.3:p.Tyr538Ter
NM_000098.2:c.1614C>A	NP_000089.1:p.Tyr538Ter
XM_005270484.1:c.1576+38C>A	XP_005270541.1:n.1576+38C>A
NM_001330589.1:c.1576+38C>A	NP_001317518.1:n.1576+38C>A
NM_000098.3:c.1614C>A MANE Select	NP_000089.1:p.Tyr538Ter
NM_001330589.2:c.1576+38C>A	NP_001317518.1:n.1576+38C>A