Canonical Allele Identifier: CA2263920299

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198487C= , CM000679.2:g.50198487C=	GRCh38
NC_000017.10:g.48275848C= , CM000679.1:g.48275848C=	GRCh37
NC_000017.9:g.45630847C=	NCBI36
NG_007400.1:g.8153G= , LRG_1:g.8153G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.489G= MANE Select	ENSP00000225964.6:p.Leu163=
ENST00000225964.9:c.489G=	ENSP00000225964.5:p.Leu163=
ENST00000495677.1:n.216G=
NM_000088.3:c.489G= , LRG_1t1:c.489G=	NP_000079.2:p.Leu163=
XM_005257058.3:c.489G=	XP_005257115.2:p.Leu163=
XM_005257059.3:c.489G=	XP_005257116.2:p.Leu163=
XM_011524341.1:c.489G=	XP_011522643.1:p.Leu163=
XM_005257058.4:c.489G=	XP_005257115.2:p.Leu163=
XM_005257059.4:c.489G=	XP_005257116.2:p.Leu163=
NM_000088.4:c.489G= MANE Select	NP_000079.2:p.Leu163=