Canonical Allele Identifier: CA210807
Gene: CARTPT HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.71719903G>C
GRCh37 chr5:g.71015730G>C
Revel Score:
ENST00000296777 (MANE Select) 0.696
gnomAD v2:
5:71015730 G / C
gnomAD v3:
5:71719903 G / C
gnomAD v4:
chr5-71719903-G-C
Joint Max Group AF 0.00077153 (MID)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00068985 (MID)
ClinVar RCV:
RCV000023199
ClinVar Variation:
6993
dbSNP:
121909065
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719903G>C , CM000667.2:g.71719903G>C GRCh38
NC_000005.9:g.71015730G>C , CM000667.1:g.71015730G>C GRCh37
NC_000005.8:g.71051486G>C NCBI36
NG_015988.1:g.5741G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.183G>C MANE Select ENSP00000296777.4:p.Leu61Phe
ENST00000296777.4:c.183G>C ENSP00000296777.4:p.Leu61Phe
ENST00000513096.1:n.325G>C
NM_004291.3:c.183G>C NP_004282.1:p.Leu61Phe
NM_004291.4:c.183G>C MANE Select NP_004282.1:p.Leu61Phe
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