Canonical Allele Identifier: CA1189157
Gene: CRP HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.159713648C>A
GRCh37 chr1:g.159683438C>A
gnomAD v2:
1:159683438 C / A
gnomAD v3:
1:159713648 C / A
gnomAD v4:
chr1-159713648-C-A
Joint Max Group AF 0.00029253 (SAS)
Genomes Max Group AF 0.00028298 (SAS)
Exomes Max Group AF 0.00026967 (SAS)
dbSNP:
1800947
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159713648C>A , CM000663.2:g.159713648C>A GRCh38
NC_000001.10:g.159683438C>A , CM000663.1:g.159683438C>A GRCh37
NC_000001.9:g.157950062C>A NCBI36
NG_013007.1:g.5942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255030.9:c.552G>T MANE Select ENSP00000255030.5:p.Leu184=
ENST00000368110.1:c.194-8G>T ENSP00000357091.1:n.194-8G>T
ENST00000368111.5:c.194-8G>T ENSP00000357092.1:n.194-8G>T
ENST00000368112.5:c.198-45G>T ENSP00000357093.1:n.198-45G>T
ENST00000437342.1:c.18G>T ENSP00000402788.1:p.Leu6=
ENST00000473196.1:n.120G>T
ENST00000489317.1:n.74+359G>T
NM_000567.2:c.552G>T NP_000558.2:p.Leu184=
XM_011509207.1:c.552G>T XP_011507509.1:p.Leu184=
NM_001329057.1:c.552G>T NP_001315986.1:p.Leu184=
NM_001329058.1:c.198-45G>T NP_001315987.1:n.198-45G>T
NM_000567.3:c.552G>T MANE Select NP_000558.2:p.Leu184=
NM_001329057.2:c.552G>T NP_001315986.1:p.Leu184=
NM_001329058.2:c.198-45G>T NP_001315987.1:n.198-45G>T
NM_001382703.1:c.194-8G>T NP_001369632.1:n.194-8G>T
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