Canonical Allele Identifier: CA400191808

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263225G>T (hg19) ; chr17:g.50185864G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185864G>T , CM000679.2:g.50185864G>T	GRCh38
NC_000017.10:g.48263225G>T , CM000679.1:g.48263225G>T	GRCh37
NC_000017.9:g.45618224G>T	NCBI36
NG_007400.1:g.20776C>A , LRG_1:g.20776C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4162C>A MANE Select	ENSP00000225964.6:p.Leu1388Met
ENST00000225964.9:c.4162C>A	ENSP00000225964.5:p.Leu1388Met
ENST00000510710.3:n.1127C>A
NM_000088.3:c.4162C>A , LRG_1t1:c.4162C>A	NP_000079.2:p.Leu1388Met
XM_005257058.3:c.3892C>A	XP_005257115.2:p.Leu1298Met
XM_005257059.3:c.3244C>A	XP_005257116.2:p.Leu1082Met
XM_011524341.1:c.3964C>A	XP_011522643.1:p.Leu1322Met
XM_005257058.4:c.3892C>A	XP_005257115.2:p.Leu1298Met
XM_005257059.4:c.3244C>A	XP_005257116.2:p.Leu1082Met
NM_000088.4:c.4162C>A MANE Select	NP_000079.2:p.Leu1388Met