Canonical Allele Identifier: CA2263917557
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192726G= , CM000679.2:g.50192726G= GRCh38
NC_000017.10:g.48270087G= , CM000679.1:g.48270087G= GRCh37
NC_000017.9:g.45625086G= NCBI36
NG_007400.1:g.13914C= , LRG_1:g.13914C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1876-33C= MANE Select ENSP00000225964.6:n.1876-33C=
ENST00000225964.9:c.1876-33C= ENSP00000225964.5:n.1876-33C=
ENST00000476387.1:n.225-33C=
NM_000088.3:c.1876-33C= , LRG_1t1:c.1876-33C= NP_000079.2:n.1876-33C=
XM_005257058.3:c.1876-33C= XP_005257115.2:n.1876-33C=
XM_005257059.3:c.958-33C= XP_005257116.2:n.958-33C=
XM_011524341.1:c.1678-33C= XP_011522643.1:n.1678-33C=
XM_005257058.4:c.1876-33C= XP_005257115.2:n.1876-33C=
XM_005257059.4:c.958-33C= XP_005257116.2:n.958-33C=
NM_000088.4:c.1876-33C= MANE Select NP_000079.2:n.1876-33C=
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