Canonical Allele Identifier: CA400191798

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263222G>T (hg19) ; chr17:g.50185861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185861G>T , CM000679.2:g.50185861G>T	GRCh38
NC_000017.10:g.48263222G>T , CM000679.1:g.48263222G>T	GRCh37
NC_000017.9:g.45618221G>T	NCBI36
NG_007400.1:g.20779C>A , LRG_1:g.20779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4165C>A MANE Select	ENSP00000225964.6:p.Leu1389Ile
ENST00000225964.9:c.4165C>A	ENSP00000225964.5:p.Leu1389Ile
ENST00000510710.3:n.1130C>A
NM_000088.3:c.4165C>A , LRG_1t1:c.4165C>A	NP_000079.2:p.Leu1389Ile
XM_005257058.3:c.3895C>A	XP_005257115.2:p.Leu1299Ile
XM_005257059.3:c.3247C>A	XP_005257116.2:p.Leu1083Ile
XM_011524341.1:c.3967C>A	XP_011522643.1:p.Leu1323Ile
XM_005257058.4:c.3895C>A	XP_005257115.2:p.Leu1299Ile
XM_005257059.4:c.3247C>A	XP_005257116.2:p.Leu1083Ile
NM_000088.4:c.4165C>A MANE Select	NP_000079.2:p.Leu1389Ile