Canonical Allele Identifier: CA2263919382
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196695T= , CM000679.2:g.50196695T= GRCh38
NC_000017.10:g.48274056T= , CM000679.1:g.48274056T= GRCh37
NC_000017.9:g.45629055T= NCBI36
NG_007400.1:g.9945A= , LRG_1:g.9945A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.805-25A= MANE Select ENSP00000225964.6:n.805-25A=
ENST00000225964.9:c.805-25A= ENSP00000225964.5:n.805-25A=
ENST00000495677.1:n.532-25A=
NM_000088.3:c.805-25A= , LRG_1t1:c.805-25A= NP_000079.2:n.805-25A=
XM_005257058.3:c.805-25A= XP_005257115.2:n.805-25A=
XM_005257059.3:c.805-25A= XP_005257116.2:n.805-25A=
XM_011524341.1:c.805-25A= XP_011522643.1:n.805-25A=
XM_005257058.4:c.805-25A= XP_005257115.2:n.805-25A=
XM_005257059.4:c.805-25A= XP_005257116.2:n.805-25A=
NM_000088.4:c.805-25A= MANE Select NP_000079.2:n.805-25A=
Search 100 bp 5'
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