Canonical Allele Identifier: CA383729756
Gene: C1R HGNC NCBI
C1RL HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.7244130A>T (hg19) chr12:g.7091534A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7091534A>T , CM000674.2:g.7091534A>T GRCh38
NC_000012.11:g.7244130A>T , CM000674.1:g.7244130A>T GRCh37
NC_000012.10:g.7135271A>T NCBI36
NG_062465.1:g.6074T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.149T>A (C1R) MANE Select ENSP00000497341.1:p.Val50Asp
ENST00000535233.6:c.149T>A (C1R) ENSP00000438636.3:p.Val50Asp
ENST00000536053.6:c.191T>A (C1R) ENSP00000444271.3:p.Val64Asp
ENST00000536092.1:n.254T>A (C1R)
ENST00000538050.5:c.-167T>A (C1R) ENSP00000444009.1:n.-167T>A
ENST00000539803.5:c.616T>A (C1RL)
ENST00000540242.2:c.149T>A (C1R) ENSP00000442946.1:p.Val50Asp
ENST00000540394.5:n.908T>A (C1R)
ENST00000540610.5:c.-85+853T>A (C1R) ENSP00000439223.1:n.-85+853T>A
ENST00000541042.5:c.-167T>A (C1R) ENSP00000441601.1:n.-167T>A
ENST00000542285.5:c.149T>A (C1R) ENSP00000438615.2:p.Val50Asp
ENST00000543362.5:c.149T>A (C1R) ENSP00000446356.1:p.Val50Asp
ENST00000543835.5:c.149T>A (C1R) ENSP00000445285.1:p.Val50Asp
ENST00000545466.1:n.202T>A (C1R)
NM_001733.4:c.149T>A (C1R) NP_001724.3:p.Val50Asp
NM_001354346.1:c.191T>A (C1R) NP_001341275.1:p.Val64Asp
NM_001733.6:c.149T>A (C1R) NP_001724.4:p.Val50Asp
NM_001733.7:c.149T>A (C1R) MANE Select NP_001724.4:p.Val50Asp
NM_001354346.2:c.191T>A (C1R) NP_001341275.1:p.Val64Asp
Search 100 bp 5'
Search 100 bp 3'