Canonical Allele Identifier: CA257809
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17284
ClinVar RCV Id: RCV000018825
dbSNP Id: rs72645333

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196651C>T , CM000679.2:g.50196651C>T GRCh38
NC_000017.10:g.48274012C>T , CM000679.1:g.48274012C>T GRCh37
NC_000017.9:g.45629011C>T NCBI36
NG_007400.1:g.9989G>A , LRG_1:g.9989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.824G>A MANE Select ENSP00000225964.6:p.Gly275Asp
ENST00000225964.9:c.824G>A ENSP00000225964.5:p.Gly275Asp
ENST00000495677.1:n.551G>A
NM_000088.3:c.824G>A , LRG_1t1:c.824G>A NP_000079.2:p.Gly275Asp
XM_005257058.3:c.824G>A XP_005257115.2:p.Gly275Asp
XM_005257059.3:c.824G>A XP_005257116.2:p.Gly275Asp
XM_011524341.1:c.824G>A XP_011522643.1:p.Gly275Asp
XM_005257058.4:c.824G>A XP_005257115.2:p.Gly275Asp
XM_005257059.4:c.824G>A XP_005257116.2:p.Gly275Asp
NM_000088.4:c.824G>A MANE Select NP_000079.2:p.Gly275Asp