Canonical Allele Identifier: CA291542630
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50184491A>G
GRCh37 chr17:g.48261852A>G
gnomAD v2:
17:48261852 A / G
gnomAD v3:
17:50184491 A / G
gnomAD v4:
chr17-50184491-A-G
Joint Max Group AF 0.373149 (EAS)
Genomes Max Group AF 0.46805766 (EAS)
Exomes Max Group AF 0.32223072 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50184491A>G , CM000679.2:g.50184491A>G GRCh38
NC_000017.10:g.48261852A>G , CM000679.1:g.48261852A>G GRCh37
NC_000017.9:g.45616851A>G NCBI36
NG_007400.1:g.22149T>C , LRG_1:g.22149T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*1011T>C MANE Select ENSP00000225964.6:n.*1011T>C
ENST00000225964.9:c.*1011T>C ENSP00000225964.5:n.*1011T>C
NM_000088.3:c.*1011T>C , LRG_1t1:c.*1011T>C NP_000079.2:n.*1011T>C
XM_005257058.3:c.*1011T>C XP_005257115.2:n.*1011T>C
XM_005257059.3:c.*1011T>C XP_005257116.2:n.*1011T>C
XM_011524341.1:c.*1011T>C XP_011522643.1:n.*1011T>C
XM_005257058.4:c.*1011T>C XP_005257115.2:n.*1011T>C
XM_005257059.4:c.*1011T>C XP_005257116.2:n.*1011T>C
NM_000088.4:c.*1011T>C MANE Select NP_000079.2:n.*1011T>C
Search 100 bp 5'
Search 100 bp 3'