Canonical Allele Identifier: CA2263919637
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197173T= , CM000679.2:g.50197173T= GRCh38
NC_000017.10:g.48274534T= , CM000679.1:g.48274534T= GRCh37
NC_000017.9:g.45629533T= NCBI36
NG_007400.1:g.9467A= , LRG_1:g.9467A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.750+7A= MANE Select ENSP00000225964.6:n.750+7A=
ENST00000225964.9:c.750+7A= ENSP00000225964.5:n.750+7A=
ENST00000495677.1:n.477+7A=
NM_000088.3:c.750+7A= , LRG_1t1:c.750+7A= NP_000079.2:n.750+7A=
XM_005257058.3:c.750+7A= XP_005257115.2:n.750+7A=
XM_005257059.3:c.750+7A= XP_005257116.2:n.750+7A=
XM_011524341.1:c.750+7A= XP_011522643.1:n.750+7A=
XM_005257058.4:c.750+7A= XP_005257115.2:n.750+7A=
XM_005257059.4:c.750+7A= XP_005257116.2:n.750+7A=
NM_000088.4:c.750+7A= MANE Select NP_000079.2:n.750+7A=
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