Canonical Allele Identifier: CA2263916116
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190278T= , CM000679.2:g.50190278T= GRCh38
NC_000017.10:g.48267639T= , CM000679.1:g.48267639T= GRCh37
NC_000017.9:g.45622638T= NCBI36
NG_007400.1:g.16362A= , LRG_1:g.16362A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2451+49A= MANE Select ENSP00000225964.6:n.2451+49A=
ENST00000225964.9:c.2451+49A= ENSP00000225964.5:n.2451+49A=
NM_000088.3:c.2451+49A= , LRG_1t1:c.2451+49A= NP_000079.2:n.2451+49A=
XM_005257058.3:c.2451+49A= XP_005257115.2:n.2451+49A=
XM_005257059.3:c.1533+49A= XP_005257116.2:n.1533+49A=
XM_011524341.1:c.2253+49A= XP_011522643.1:n.2253+49A=
XM_005257058.4:c.2451+49A= XP_005257115.2:n.2451+49A=
XM_005257059.4:c.1533+49A= XP_005257116.2:n.1533+49A=
NM_000088.4:c.2451+49A= MANE Select NP_000079.2:n.2451+49A=
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