Canonical Allele Identifier: CA400191957
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185887T>G , CM000679.2:g.50185887T>G GRCh38
NC_000017.10:g.48263248T>G , CM000679.1:g.48263248T>G GRCh37
NC_000017.9:g.45618247T>G NCBI36
NG_007400.1:g.20753A>C , LRG_1:g.20753A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4139A>C MANE Select ENSP00000225964.6:p.Gln1380Pro
ENST00000225964.9:c.4139A>C ENSP00000225964.5:p.Gln1380Pro
ENST00000510710.3:n.1104A>C
NM_000088.3:c.4139A>C , LRG_1t1:c.4139A>C NP_000079.2:p.Gln1380Pro
XM_005257058.3:c.3869A>C XP_005257115.2:p.Gln1290Pro
XM_005257059.3:c.3221A>C XP_005257116.2:p.Gln1074Pro
XM_011524341.1:c.3941A>C XP_011522643.1:p.Gln1314Pro
XM_005257058.4:c.3869A>C XP_005257115.2:p.Gln1290Pro
XM_005257059.4:c.3221A>C XP_005257116.2:p.Gln1074Pro
NM_000088.4:c.4139A>C MANE Select NP_000079.2:p.Gln1380Pro