Canonical Allele Identifier: CA2263920672
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199366C= , CM000679.2:g.50199366C= GRCh38
NC_000017.10:g.48276727C= , CM000679.1:g.48276727C= GRCh37
NC_000017.9:g.45631726C= NCBI36
NG_007400.1:g.7274G= , LRG_1:g.7274G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.370-39G= MANE Select ENSP00000225964.6:n.370-39G=
ENST00000225964.9:c.370-39G= ENSP00000225964.5:n.370-39G=
ENST00000474644.1:n.591-39G=
ENST00000507689.1:c.424-39G= ENSP00000460459.1:n.424-39G=
NM_000088.3:c.370-39G= , LRG_1t1:c.370-39G= NP_000079.2:n.370-39G=
XM_005257058.3:c.370-39G= XP_005257115.2:n.370-39G=
XM_005257059.3:c.370-39G= XP_005257116.2:n.370-39G=
XM_011524341.1:c.370-39G= XP_011522643.1:n.370-39G=
XM_005257058.4:c.370-39G= XP_005257115.2:n.370-39G=
XM_005257059.4:c.370-39G= XP_005257116.2:n.370-39G=
NM_000088.4:c.370-39G= MANE Select NP_000079.2:n.370-39G=