Canonical Allele Identifier: CA291542630
Gene: COL1A1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1061970

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
NM_000088.3:c.*1011T>C , LRG_1t1:c.*1011T>C NP_000079.2:p.=
XM_005257058.3:c.*1011T>C XP_005257115.2:p.=
XM_005257059.3:c.*1011T>C XP_005257116.2:p.=
XM_011524341.1:c.*1011T>C XP_011522643.1:p.=
XM_005257058.4:c.*1011T>C
XM_005257059.4:c.*1011T>C
ENST00000225964.9:c.*1011T>C ENSP00000225964.5:p.=