Canonical Allele Identifier: CA400189916
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1906418311

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185527T>A , CM000679.2:g.50185527T>A GRCh38
NC_000017.10:g.48262888T>A , CM000679.1:g.48262888T>A GRCh37
NC_000017.9:g.45617887T>A NCBI36
NG_007400.1:g.21113A>T , LRG_1:g.21113A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4370A>T MANE Select ENSP00000225964.6:p.Asp1457Val
ENST00000225964.9:c.4370A>T ENSP00000225964.5:p.Asp1457Val
NM_000088.3:c.4370A>T , LRG_1t1:c.4370A>T NP_000079.2:p.Asp1457Val
XM_005257058.3:c.4100A>T XP_005257115.2:p.Asp1367Val
XM_005257059.3:c.3452A>T XP_005257116.2:p.Asp1151Val
XM_011524341.1:c.4172A>T XP_011522643.1:p.Asp1391Val
XM_005257058.4:c.4100A>T XP_005257115.2:p.Asp1367Val
XM_005257059.4:c.3452A>T XP_005257116.2:p.Asp1151Val
NM_000088.4:c.4370A>T MANE Select NP_000079.2:p.Asp1457Val