Canonical Allele Identifier: CA2263913878

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185839A= , CM000679.2:g.50185839A=	GRCh38
NC_000017.10:g.48263200A= , CM000679.1:g.48263200A=	GRCh37
NC_000017.9:g.45618199A=	NCBI36
NG_007400.1:g.20801T= , LRG_1:g.20801T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4187T= MANE Select	ENSP00000225964.6:p.Ile1396=
ENST00000225964.9:c.4187T=	ENSP00000225964.5:p.Ile1396=
NM_000088.3:c.4187T= , LRG_1t1:c.4187T=	NP_000079.2:p.Ile1396=
XM_005257058.3:c.3917T=	XP_005257115.2:p.Ile1306=
XM_005257059.3:c.3269T=	XP_005257116.2:p.Ile1090=
XM_011524341.1:c.3989T=	XP_011522643.1:p.Ile1330=
XM_005257058.4:c.3917T=	XP_005257115.2:p.Ile1306=
XM_005257059.4:c.3269T=	XP_005257116.2:p.Ile1090=
NM_000088.4:c.4187T= MANE Select	NP_000079.2:p.Ile1396=