Canonical Allele Identifier: CA2263920533
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199076A= , CM000679.2:g.50199076A= GRCh38
NC_000017.10:g.48276437A= , CM000679.1:g.48276437A= GRCh37
NC_000017.9:g.45631436A= NCBI36
NG_007400.1:g.7564T= , LRG_1:g.7564T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.471+150T= MANE Select ENSP00000225964.6:n.471+150T=
ENST00000225964.9:c.471+150T= ENSP00000225964.5:n.471+150T=
NM_000088.3:c.471+150T= , LRG_1t1:c.471+150T= NP_000079.2:n.471+150T=
XM_005257058.3:c.471+150T= XP_005257115.2:n.471+150T=
XM_005257059.3:c.471+150T= XP_005257116.2:n.471+150T=
XM_011524341.1:c.471+150T= XP_011522643.1:n.471+150T=
XM_005257058.4:c.471+150T= XP_005257115.2:n.471+150T=
XM_005257059.4:c.471+150T= XP_005257116.2:n.471+150T=
NM_000088.4:c.471+150T= MANE Select NP_000079.2:n.471+150T=
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