Canonical Allele Identifier: CA260287
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50191853G>A , CM000679.2:g.50191853G>A GRCh38
NC_000017.10:g.48269214G>A , CM000679.1:g.48269214G>A GRCh37
NC_000017.9:g.45624213G>A NCBI36
NG_007400.1:g.14787C>T , LRG_1:g.14787C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2062C>T MANE Select ENSP00000225964.6:p.Gln688Ter
ENST00000225964.9:c.2062C>T ENSP00000225964.5:p.Gln688Ter
ENST00000476387.1:n.411C>T
NM_000088.3:c.2062C>T , LRG_1t1:c.2062C>T NP_000079.2:p.Gln688Ter
XM_005257058.3:c.2062C>T XP_005257115.2:p.Gln688Ter
XM_005257059.3:c.1144C>T XP_005257116.2:p.Gln382Ter
XM_011524341.1:c.1864C>T XP_011522643.1:p.Gln622Ter
XM_005257058.4:c.2062C>T XP_005257115.2:p.Gln688Ter
XM_005257059.4:c.1144C>T XP_005257116.2:p.Gln382Ter
NM_000088.4:c.2062C>T MANE Select NP_000079.2:p.Gln688Ter
Search 100 bp 5'
Search 100 bp 3'