Canonical Allele Identifier: CA340395615

Gene: CPT2

Linked Data

• ClinVar Variation Id: 550475
• ClinVar RCV Id: RCV000665230 ; RCV001868201 ; RCV003451633 ; RCV003451634 ; RCV003451635
• dbSNP Id: rs140771069
• MyVariant Identifiers: chr1:g.53676750G>T (hg19) ; chr1:g.53211078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211078G>T , CM000663.2:g.53211078G>T	GRCh38
NC_000001.10:g.53676750G>T , CM000663.1:g.53676750G>T	GRCh37
NC_000001.9:g.53449338G>T	NCBI36
NG_008035.1:g.19650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1404G>T MANE Select	ENSP00000360541.3:p.Gln468His
ENST00000635862.1:c.1404G>T	ENSP00000490867.1:p.Gln468His
ENST00000635888.1:c.*1390G>T	ENSP00000490042.1:n.*1390G>T
ENST00000636239.1:c.*1051G>T	ENSP00000490066.1:n.*1051G>T
ENST00000636867.1:c.1404G>T	ENSP00000489631.1:p.Gln468His
ENST00000636891.1:c.1404G>T	ENSP00000490399.1:p.Gln468His
ENST00000636935.1:c.341-2186G>T	ENSP00000489757.1:n.341-2186G>T
ENST00000637252.1:c.1404G>T	ENSP00000490492.1:p.Gln468His
ENST00000637726.1:n.3604G>T
ENST00000638135.1:c.*1051G>T	ENSP00000489756.1:n.*1051G>T
ENST00000371486.3:c.1404G>T	ENSP00000360541.3:p.Gln468His
NM_000098.2:c.1404G>T	NP_000089.1:p.Gln468His
XM_005270484.1:c.1404G>T	XP_005270541.1:p.Gln468His
NM_001330589.1:c.1404G>T	NP_001317518.1:p.Gln468His
NM_000098.3:c.1404G>T MANE Select	NP_000089.1:p.Gln468His
NM_001330589.2:c.1404G>T	NP_001317518.1:p.Gln468His