Canonical Allele Identifier: CA340397405

Gene: CPT2

Linked Data

• gnomAD v4: 1-53213287-T-C
• MyVariant Identifiers: chr1:g.53678959T>C (hg19) ; chr1:g.53213287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213287T>C , CM000663.2:g.53213287T>C	GRCh38
NC_000001.10:g.53678959T>C , CM000663.1:g.53678959T>C	GRCh37
NC_000001.9:g.53451547T>C	NCBI36
NG_008035.1:g.21859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1669T>C MANE Select	ENSP00000360541.3:p.Phe557Leu
ENST00000635862.1:c.1636T>C	ENSP00000490867.1:p.Phe546Leu
ENST00000635888.1:c.*1655T>C	ENSP00000490042.1:n.*1655T>C
ENST00000636239.1:c.*1316T>C	ENSP00000490066.1:n.*1316T>C
ENST00000636867.1:c.1600T>C	ENSP00000489631.1:p.Phe534Leu
ENST00000636891.1:c.1719T>C	ENSP00000490399.1:p.Cys573=
ENST00000636935.1:c.364T>C	ENSP00000489757.1:p.Phe122Leu
ENST00000637252.1:c.1705T>C	ENSP00000490492.1:p.Phe569Leu
ENST00000638135.1:c.*1316T>C	ENSP00000489756.1:n.*1316T>C
ENST00000371486.3:c.1669T>C	ENSP00000360541.3:p.Phe557Leu
NM_000098.2:c.1669T>C	NP_000089.1:p.Phe557Leu
XM_005270484.1:c.1600T>C	XP_005270541.1:p.Phe534Leu
NM_001330589.1:c.1600T>C	NP_001317518.1:p.Phe534Leu
NM_000098.3:c.1669T>C MANE Select	NP_000089.1:p.Phe557Leu
NM_001330589.2:c.1600T>C	NP_001317518.1:p.Phe534Leu