Canonical Allele Identifier: CA2263920649
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199329T= , CM000679.2:g.50199329T= GRCh38
NC_000017.10:g.48276690T= , CM000679.1:g.48276690T= GRCh37
NC_000017.9:g.45631689T= NCBI36
NG_007400.1:g.7311A= , LRG_1:g.7311A=

Transcript Alleles

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