Canonical Allele Identifier: CA500842670

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262881G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185520G>T , CM000679.2:g.50185520G>T	GRCh38
NC_000017.10:g.48262881G>T , CM000679.1:g.48262881G>T	GRCh37
NC_000017.9:g.45617880G>T	NCBI36
NG_007400.1:g.21120C>A , LRG_1:g.21120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4377C>A MANE Select	ENSP00000225964.6:p.Gly1459=
ENST00000225964.9:c.4377C>A	ENSP00000225964.5:p.Gly1459=
NM_000088.3:c.4377C>A , LRG_1t1:c.4377C>A	NP_000079.2:p.Gly1459=
XM_005257058.3:c.4107C>A	XP_005257115.2:p.Gly1369=
XM_005257059.3:c.3459C>A	XP_005257116.2:p.Gly1153=
XM_011524341.1:c.4179C>A	XP_011522643.1:p.Gly1393=
XM_005257058.4:c.4107C>A	XP_005257115.2:p.Gly1369=
XM_005257059.4:c.3459C>A	XP_005257116.2:p.Gly1153=
NM_000088.4:c.4377C>A MANE Select	NP_000079.2:p.Gly1459=