Canonical Allele Identifier: CA2263916150
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190324C= , CM000679.2:g.50190324C= GRCh38
NC_000017.10:g.48267685C= , CM000679.1:g.48267685C= GRCh37
NC_000017.9:g.45622684C= NCBI36
NG_007400.1:g.16316G= , LRG_1:g.16316G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2451+3G= MANE Select ENSP00000225964.6:n.2451+3G=
ENST00000225964.9:c.2451+3G= ENSP00000225964.5:n.2451+3G=
ENST00000494334.1:n.381G=
NM_000088.3:c.2451+3G= , LRG_1t1:c.2451+3G= NP_000079.2:n.2451+3G=
XM_005257058.3:c.2451+3G= XP_005257115.2:n.2451+3G=
XM_005257059.3:c.1533+3G= XP_005257116.2:n.1533+3G=
XM_011524341.1:c.2253+3G= XP_011522643.1:n.2253+3G=
XM_005257058.4:c.2451+3G= XP_005257115.2:n.2451+3G=
XM_005257059.4:c.1533+3G= XP_005257116.2:n.1533+3G=
NM_000088.4:c.2451+3G= MANE Select NP_000079.2:n.2451+3G=
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