Canonical Allele Identifier: CA13312162
Gene: CPN1 HGNC NCBI

Linked Data

dbSNP Id: rs11599750
gnomAD v2: 10-101805442-C-T
gnomAD v3: 10-100045685-C-T
gnomAD v4: 10-100045685-C-T
MyVariant Identifiers: chr10:g.101805442C>T (hg19) chr10:g.100045685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045685C>T , CM000672.2:g.100045685C>T GRCh38
NC_000010.10:g.101805442C>T , CM000672.1:g.101805442C>T GRCh37
NC_000010.9:g.101795432C>T NCBI36
NG_012060.1:g.41201G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370418.8:c.1230+3073G>A MANE Select ENSP00000359446.3:n.1230+3073G>A
ENST00000370418.7:c.1230+3073G>A ENSP00000359446.3:n.1230+3073G>A
NM_001308.2:c.1230+3073G>A NP_001299.1:n.1230+3073G>A
XM_011539299.1:c.1272+3073G>A XP_011537601.1:n.1272+3073G>A
NM_001308.3:c.1230+3073G>A MANE Select NP_001299.1:n.1230+3073G>A
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