Canonical Allele Identifier: CA2263913711

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185564A= , CM000679.2:g.50185564A=	GRCh38
NC_000017.10:g.48262925A= , CM000679.1:g.48262925A=	GRCh37
NC_000017.9:g.45617924A=	NCBI36
NG_007400.1:g.21076T= , LRG_1:g.21076T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4333T= MANE Select	ENSP00000225964.6:p.Leu1445=
ENST00000225964.9:c.4333T=	ENSP00000225964.5:p.Leu1445=
NM_000088.3:c.4333T= , LRG_1t1:c.4333T=	NP_000079.2:p.Leu1445=
XM_005257058.3:c.4063T=	XP_005257115.2:p.Leu1355=
XM_005257059.3:c.3415T=	XP_005257116.2:p.Leu1139=
XM_011524341.1:c.4135T=	XP_011522643.1:p.Leu1379=
XM_005257058.4:c.4063T=	XP_005257115.2:p.Leu1355=
XM_005257059.4:c.3415T=	XP_005257116.2:p.Leu1139=
NM_000088.4:c.4333T= MANE Select	NP_000079.2:p.Leu1445=