Canonical Allele Identifier: CA2263913694
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185532G= , CM000679.2:g.50185532G= GRCh38
NC_000017.10:g.48262893G= , CM000679.1:g.48262893G= GRCh37
NC_000017.9:g.45617892G= NCBI36
NG_007400.1:g.21108C= , LRG_1:g.21108C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4365C= MANE Select ENSP00000225964.6:p.Gly1455=
ENST00000225964.9:c.4365C= ENSP00000225964.5:p.Gly1455=
NM_000088.3:c.4365C= , LRG_1t1:c.4365C= NP_000079.2:p.Gly1455=
XM_005257058.3:c.4095C= XP_005257115.2:p.Gly1365=
XM_005257059.3:c.3447C= XP_005257116.2:p.Gly1149=
XM_011524341.1:c.4167C= XP_011522643.1:p.Gly1389=
XM_005257058.4:c.4095C= XP_005257115.2:p.Gly1365=
XM_005257059.4:c.3447C= XP_005257116.2:p.Gly1149=
NM_000088.4:c.4365C= MANE Select NP_000079.2:p.Gly1455=