Canonical Allele Identifier: CA340396901
Gene: CPT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211268A>T , CM000663.2:g.53211268A>T GRCh38
NC_000001.10:g.53676940A>T , CM000663.1:g.53676940A>T GRCh37
NC_000001.9:g.53449528A>T NCBI36
NG_008035.1:g.19840A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1594A>T MANE Select ENSP00000360541.3:p.Met532Leu
ENST00000635862.1:c.1576+18A>T ENSP00000490867.1:n.1576+18A>T
ENST00000635888.1:c.*1580A>T ENSP00000490042.1:n.*1580A>T
ENST00000636239.1:c.*1241A>T ENSP00000490066.1:n.*1241A>T
ENST00000636867.1:c.1576+18A>T ENSP00000489631.1:n.1576+18A>T
ENST00000636891.1:c.1594A>T ENSP00000490399.1:p.Met532Leu
ENST00000636935.1:c.341-1996A>T ENSP00000489757.1:n.341-1996A>T
ENST00000637252.1:c.1594A>T ENSP00000490492.1:p.Met532Leu
ENST00000637726.1:n.3794A>T
ENST00000638135.1:c.*1241A>T ENSP00000489756.1:n.*1241A>T
ENST00000371486.3:c.1594A>T ENSP00000360541.3:p.Met532Leu
NM_000098.2:c.1594A>T NP_000089.1:p.Met532Leu
XM_005270484.1:c.1576+18A>T XP_005270541.1:n.1576+18A>T
NM_001330589.1:c.1576+18A>T NP_001317518.1:n.1576+18A>T
NM_000098.3:c.1594A>T MANE Select NP_000089.1:p.Met532Leu
NM_001330589.2:c.1576+18A>T NP_001317518.1:n.1576+18A>T