Canonical Allele Identifier: CA400191787

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263219G>T (hg19) ; chr17:g.50185858G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185858G>T , CM000679.2:g.50185858G>T	GRCh38
NC_000017.10:g.48263219G>T , CM000679.1:g.48263219G>T	GRCh37
NC_000017.9:g.45618218G>T	NCBI36
NG_007400.1:g.20782C>A , LRG_1:g.20782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4168C>A MANE Select	ENSP00000225964.6:p.Leu1390Ile
ENST00000225964.9:c.4168C>A	ENSP00000225964.5:p.Leu1390Ile
ENST00000510710.3:n.1133C>A
NM_000088.3:c.4168C>A , LRG_1t1:c.4168C>A	NP_000079.2:p.Leu1390Ile
XM_005257058.3:c.3898C>A	XP_005257115.2:p.Leu1300Ile
XM_005257059.3:c.3250C>A	XP_005257116.2:p.Leu1084Ile
XM_011524341.1:c.3970C>A	XP_011522643.1:p.Leu1324Ile
XM_005257058.4:c.3898C>A	XP_005257115.2:p.Leu1300Ile
XM_005257059.4:c.3250C>A	XP_005257116.2:p.Leu1084Ile
NM_000088.4:c.4168C>A MANE Select	NP_000079.2:p.Leu1390Ile