Canonical Allele Identifier: CA400200531

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265895T>A (hg19) ; chr17:g.50188534T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188534T>A , CM000679.2:g.50188534T>A	GRCh38
NC_000017.10:g.48265895T>A , CM000679.1:g.48265895T>A	GRCh37
NC_000017.9:g.45620894T>A	NCBI36
NG_007400.1:g.18106A>T , LRG_1:g.18106A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3203A>T MANE Select	ENSP00000225964.6:p.Glu1068Val
ENST00000225964.9:c.3203A>T	ENSP00000225964.5:p.Glu1068Val
ENST00000486572.1:n.21A>T
ENST00000511732.1:n.147A>T
NM_000088.3:c.3203A>T , LRG_1t1:c.3203A>T	NP_000079.2:p.Glu1068Val
XM_005257058.3:c.2933A>T	XP_005257115.2:p.Glu978Val
XM_005257059.3:c.2285A>T	XP_005257116.2:p.Glu762Val
XM_011524341.1:c.3005A>T	XP_011522643.1:p.Glu1002Val
XM_005257058.4:c.2933A>T	XP_005257115.2:p.Glu978Val
XM_005257059.4:c.2285A>T	XP_005257116.2:p.Glu762Val
NM_000088.4:c.3203A>T MANE Select	NP_000079.2:p.Glu1068Val