Canonical Allele Identifier: CA2263913784
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185681T= , CM000679.2:g.50185681T= GRCh38
NC_000017.10:g.48263042T= , CM000679.1:g.48263042T= GRCh37
NC_000017.9:g.45618041T= NCBI36
NG_007400.1:g.20959A= , LRG_1:g.20959A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4249-33A= MANE Select ENSP00000225964.6:n.4249-33A=
ENST00000225964.9:c.4249-33A= ENSP00000225964.5:n.4249-33A=
NM_000088.3:c.4249-33A= , LRG_1t1:c.4249-33A= NP_000079.2:n.4249-33A=
XM_005257058.3:c.3979-33A= XP_005257115.2:n.3979-33A=
XM_005257059.3:c.3331-33A= XP_005257116.2:n.3331-33A=
XM_011524341.1:c.4051-33A= XP_011522643.1:n.4051-33A=
XM_005257058.4:c.3979-33A= XP_005257115.2:n.3979-33A=
XM_005257059.4:c.3331-33A= XP_005257116.2:n.3331-33A=
NM_000088.4:c.4249-33A= MANE Select NP_000079.2:n.4249-33A=