Canonical Allele Identifier: CA340397659

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53679080T>A (hg19) ; chr1:g.53213408T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213408T>A , CM000663.2:g.53213408T>A	GRCh38
NC_000001.10:g.53679080T>A , CM000663.1:g.53679080T>A	GRCh37
NC_000001.9:g.53451668T>A	NCBI36
NG_008035.1:g.21980T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1790T>A MANE Select	ENSP00000360541.3:p.Val597Glu
ENST00000635862.1:c.1757T>A	ENSP00000490867.1:p.Val586Glu
ENST00000635888.1:c.*1776T>A	ENSP00000490042.1:n.*1776T>A
ENST00000636239.1:c.*1437T>A	ENSP00000490066.1:n.*1437T>A
ENST00000636867.1:c.1721T>A	ENSP00000489631.1:p.Val574Glu
ENST00000636891.1:c.*43T>A	ENSP00000490399.1:n.*43T>A
ENST00000636935.1:c.485T>A	ENSP00000489757.1:p.Val162Glu
ENST00000637252.1:c.1826T>A	ENSP00000490492.1:p.Val609Glu
ENST00000638135.1:c.*1437T>A	ENSP00000489756.1:n.*1437T>A
ENST00000371486.3:c.1790T>A	ENSP00000360541.3:p.Val597Glu
NM_000098.2:c.1790T>A	NP_000089.1:p.Val597Glu
XM_005270484.1:c.1721T>A	XP_005270541.1:p.Val574Glu
NM_001330589.1:c.1721T>A	NP_001317518.1:p.Val574Glu
NM_000098.3:c.1790T>A MANE Select	NP_000089.1:p.Val597Glu
NM_001330589.2:c.1721T>A	NP_001317518.1:p.Val574Glu