Canonical Allele Identifier: CA2263919088
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196132T= , CM000679.2:g.50196132T= GRCh38
NC_000017.10:g.48273493T= , CM000679.1:g.48273493T= GRCh37
NC_000017.9:g.45628492T= NCBI36
NG_007400.1:g.10508A= , LRG_1:g.10508A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1002+23A= MANE Select ENSP00000225964.6:n.1002+23A=
ENST00000225964.9:c.1002+23A= ENSP00000225964.5:n.1002+23A=
ENST00000485870.1:n.350A=
NM_000088.3:c.1002+23A= , LRG_1t1:c.1002+23A= NP_000079.2:n.1002+23A=
XM_005257058.3:c.1002+23A= XP_005257115.2:n.1002+23A=
XM_005257059.3:c.957+182A= XP_005257116.2:n.957+182A=
XM_011524341.1:c.957+182A= XP_011522643.1:n.957+182A=
XM_005257058.4:c.1002+23A= XP_005257115.2:n.1002+23A=
XM_005257059.4:c.957+182A= XP_005257116.2:n.957+182A=
NM_000088.4:c.1002+23A= MANE Select NP_000079.2:n.1002+23A=
Search 100 bp 5'
Search 100 bp 3'