Canonical Allele Identifier: CA2263919587
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197065T= , CM000679.2:g.50197065T= GRCh38
NC_000017.10:g.48274426T= , CM000679.1:g.48274426T= GRCh37
NC_000017.9:g.45629425T= NCBI36
NG_007400.1:g.9575A= , LRG_1:g.9575A=

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.751-2A= MANE Select ENSP00000225964.6:n.751-2A=
ENST00000225964.9:c.751-2A= ENSP00000225964.5:n.751-2A=
ENST00000495677.1:n.478-2A=
NM_000088.3:c.751-2A= , LRG_1t1:c.751-2A= NP_000079.2:n.751-2A=
XM_005257058.3:c.751-2A= XP_005257115.2:n.751-2A=
XM_005257059.3:c.751-2A= XP_005257116.2:n.751-2A=
XM_011524341.1:c.751-2A= XP_011522643.1:n.751-2A=
XM_005257058.4:c.751-2A= XP_005257115.2:n.751-2A=
XM_005257059.4:c.751-2A= XP_005257116.2:n.751-2A=
NM_000088.4:c.751-2A= MANE Select NP_000079.2:n.751-2A=