Canonical Allele Identifier: CA257890
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17326
dbSNP Id: rs66527965

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193038C>T , CM000679.2:g.50193038C>T GRCh38
NC_000017.10:g.48270399C>T , CM000679.1:g.48270399C>T GRCh37
NC_000017.9:g.45625398C>T NCBI36
NG_007400.1:g.13602G>A , LRG_1:g.13602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1777G>A MANE Select ENSP00000225964.6:p.Gly593Ser
ENST00000225964.9:c.1777G>A ENSP00000225964.5:p.Gly593Ser
ENST00000476387.1:n.126G>A
NM_000088.3:c.1777G>A , LRG_1t1:c.1777G>A NP_000079.2:p.Gly593Ser
XM_005257058.3:c.1777G>A XP_005257115.2:p.Gly593Ser
XM_005257059.3:c.958-345G>A XP_005257116.2:n.958-345G>A
XM_011524341.1:c.1579G>A XP_011522643.1:p.Gly527Ser
XM_005257058.4:c.1777G>A XP_005257115.2:p.Gly593Ser
XM_005257059.4:c.958-345G>A XP_005257116.2:n.958-345G>A
NM_000088.4:c.1777G>A MANE Select NP_000079.2:p.Gly593Ser