Canonical Allele Identifier: CA2263919437
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196791T= , CM000679.2:g.50196791T= GRCh38
NC_000017.10:g.48274152T= , CM000679.1:g.48274152T= GRCh37
NC_000017.9:g.45629151T= NCBI36
NG_007400.1:g.9849A= , LRG_1:g.9849A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.805-121A= MANE Select ENSP00000225964.6:n.805-121A=
ENST00000225964.9:c.805-121A= ENSP00000225964.5:n.805-121A=
ENST00000495677.1:n.532-121A=
NM_000088.3:c.805-121A= , LRG_1t1:c.805-121A= NP_000079.2:n.805-121A=
XM_005257058.3:c.805-121A= XP_005257115.2:n.805-121A=
XM_005257059.3:c.805-121A= XP_005257116.2:n.805-121A=
XM_011524341.1:c.805-121A= XP_011522643.1:n.805-121A=
XM_005257058.4:c.805-121A= XP_005257115.2:n.805-121A=
XM_005257059.4:c.805-121A= XP_005257116.2:n.805-121A=
NM_000088.4:c.805-121A= MANE Select NP_000079.2:n.805-121A=
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