Canonical Allele Identifier: CA202693

Gene: CPT2

Linked Data

• ClinVar Variation Id: 197104
• ClinVar RCV Id: RCV000178037 ; RCV000385074 ; RCV001706139 ; RCV003454456 ; RCV003454457 ; RCV003454458 ; RCV003454455
• dbSNP Id: rs2229292
• ExAC: 1:53675857 C / T
• gnomAD v2: 1-53675857-C-T
• gnomAD v3: 1-53210185-C-T
• gnomAD v4: 1-53210185-C-T
• MyVariant Identifiers: chr1:g.53675857C>T (hg19) ; chr1:g.53210185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210185C>T , CM000663.2:g.53210185C>T	GRCh38
NC_000001.10:g.53675857C>T , CM000663.1:g.53675857C>T	GRCh37
NC_000001.9:g.53448445C>T	NCBI36
NG_008035.1:g.18757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.511C>T MANE Select	ENSP00000360541.3:p.Leu171=
ENST00000635862.1:c.511C>T	ENSP00000490867.1:p.Leu171=
ENST00000635888.1:c.*497C>T	ENSP00000490042.1:n.*497C>T
ENST00000636239.1:c.*158C>T	ENSP00000490066.1:n.*158C>T
ENST00000636867.1:c.511C>T	ENSP00000489631.1:p.Leu171=
ENST00000636891.1:c.511C>T	ENSP00000490399.1:p.Leu171=
ENST00000636935.1:c.341-3079C>T	ENSP00000489757.1:n.341-3079C>T
ENST00000637252.1:c.511C>T	ENSP00000490492.1:p.Leu171=
ENST00000637726.1:n.2711C>T
ENST00000638135.1:c.*158C>T	ENSP00000489756.1:n.*158C>T
ENST00000371486.3:c.511C>T	ENSP00000360541.3:p.Leu171=
NM_000098.2:c.511C>T	NP_000089.1:p.Leu171=
XM_005270484.1:c.511C>T	XP_005270541.1:p.Leu171=
NM_001330589.1:c.511C>T	NP_001317518.1:p.Leu171=
NM_000098.3:c.511C>T MANE Select	NP_000089.1:p.Leu171=
NM_001330589.2:c.511C>T	NP_001317518.1:p.Leu171=