Canonical Allele Identifier: CA2263917423
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193189G= , CM000679.2:g.50193189G= GRCh38
NC_000017.10:g.48270550G= , CM000679.1:g.48270550G= GRCh37
NC_000017.9:g.45625549G= NCBI36
NG_007400.1:g.13451C= , LRG_1:g.13451C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1768-142C= MANE Select ENSP00000225964.6:n.1768-142C=
ENST00000225964.9:c.1768-142C= ENSP00000225964.5:n.1768-142C=
ENST00000476387.1:n.117-142C=
NM_000088.3:c.1768-142C= , LRG_1t1:c.1768-142C= NP_000079.2:n.1768-142C=
XM_005257058.3:c.1768-142C= XP_005257115.2:n.1768-142C=
XM_005257059.3:c.958-496C= XP_005257116.2:n.958-496C=
XM_011524341.1:c.1570-142C= XP_011522643.1:n.1570-142C=
XM_005257058.4:c.1768-142C= XP_005257115.2:n.1768-142C=
XM_005257059.4:c.958-496C= XP_005257116.2:n.958-496C=
NM_000088.4:c.1768-142C= MANE Select NP_000079.2:n.1768-142C=
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