Canonical Allele Identifier: CA8644239
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415174
ClinVar RCV Id: RCV001945487
dbSNP Id: rs373474549

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185843C>T , CM000679.2:g.50185843C>T GRCh38
NC_000017.10:g.48263204C>T , CM000679.1:g.48263204C>T GRCh37
NC_000017.9:g.45618203C>T NCBI36
NG_007400.1:g.20797G>A , LRG_1:g.20797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4183G>A MANE Select ENSP00000225964.6:p.Glu1395Lys
ENST00000225964.9:c.4183G>A ENSP00000225964.5:p.Glu1395Lys
NM_000088.3:c.4183G>A , LRG_1t1:c.4183G>A NP_000079.2:p.Glu1395Lys
XM_005257058.3:c.3913G>A XP_005257115.2:p.Glu1305Lys
XM_005257059.3:c.3265G>A XP_005257116.2:p.Glu1089Lys
XM_011524341.1:c.3985G>A XP_011522643.1:p.Glu1329Lys
XM_005257058.4:c.3913G>A XP_005257115.2:p.Glu1305Lys
XM_005257059.4:c.3265G>A XP_005257116.2:p.Glu1089Lys
NM_000088.4:c.4183G>A MANE Select NP_000079.2:p.Glu1395Lys