Canonical Allele Identifier: CA212878528
Gene: CPN1 HGNC NCBI

Linked Data

dbSNP Id: rs373165026
gnomAD v2: 10-101805461-A-G
gnomAD v3: 10-100045704-A-G
gnomAD v4: 10-100045704-A-G
MyVariant Identifiers: chr10:g.101805461A>G (hg19) chr10:g.100045704A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045704A>G , CM000672.2:g.100045704A>G GRCh38
NC_000010.10:g.101805461A>G , CM000672.1:g.101805461A>G GRCh37
NC_000010.9:g.101795451A>G NCBI36
NG_012060.1:g.41182T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370418.8:c.1230+3054T>C MANE Select ENSP00000359446.3:n.1230+3054T>C
ENST00000370418.7:c.1230+3054T>C ENSP00000359446.3:n.1230+3054T>C
NM_001308.2:c.1230+3054T>C NP_001299.1:n.1230+3054T>C
XM_011539299.1:c.1272+3054T>C XP_011537601.1:n.1272+3054T>C
NM_001308.3:c.1230+3054T>C MANE Select NP_001299.1:n.1230+3054T>C
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