Canonical Allele Identifier: CA400217412
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194602G>T , CM000679.2:g.50194602G>T GRCh38
NC_000017.10:g.48271963G>T , CM000679.1:g.48271963G>T GRCh37
NC_000017.9:g.45626962G>T NCBI36
NG_007400.1:g.12038C>A , LRG_1:g.12038C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1486C>A MANE Select ENSP00000225964.6:p.Pro496Thr
ENST00000225964.9:c.1486C>A ENSP00000225964.5:p.Pro496Thr
ENST00000471344.1:n.430C>A
NM_000088.3:c.1486C>A , LRG_1t1:c.1486C>A NP_000079.2:p.Pro496Thr
XM_005257058.3:c.1486C>A XP_005257115.2:p.Pro496Thr
XM_005257059.3:c.957+1712C>A XP_005257116.2:n.957+1712C>A
XM_011524341.1:c.1288C>A XP_011522643.1:p.Pro430Thr
XM_005257058.4:c.1486C>A XP_005257115.2:p.Pro496Thr
XM_005257059.4:c.957+1712C>A XP_005257116.2:n.957+1712C>A
NM_000088.4:c.1486C>A MANE Select NP_000079.2:p.Pro496Thr