Canonical Allele Identifier: CA500845490

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48267697A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190336A>T , CM000679.2:g.50190336A>T	GRCh38
NC_000017.10:g.48267697A>T , CM000679.1:g.48267697A>T	GRCh37
NC_000017.9:g.45622696A>T	NCBI36
NG_007400.1:g.16304T>A , LRG_1:g.16304T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2442T>A MANE Select	ENSP00000225964.6:p.Ala814=
ENST00000225964.9:c.2442T>A	ENSP00000225964.5:p.Ala814=
ENST00000494334.1:n.369T>A
NM_000088.3:c.2442T>A , LRG_1t1:c.2442T>A	NP_000079.2:p.Ala814=
XM_005257058.3:c.2442T>A	XP_005257115.2:p.Ala814=
XM_005257059.3:c.1524T>A	XP_005257116.2:p.Ala508=
XM_011524341.1:c.2244T>A	XP_011522643.1:p.Ala748=
XM_005257058.4:c.2442T>A	XP_005257115.2:p.Ala814=
XM_005257059.4:c.1524T>A	XP_005257116.2:p.Ala508=
NM_000088.4:c.2442T>A MANE Select	NP_000079.2:p.Ala814=