Canonical Allele Identifier: CA2263913864

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185816T= , CM000679.2:g.50185816T=	GRCh38
NC_000017.10:g.48263177T= , CM000679.1:g.48263177T=	GRCh37
NC_000017.9:g.45618176T=	NCBI36
NG_007400.1:g.20824A= , LRG_1:g.20824A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4210A= MANE Select	ENSP00000225964.6:p.Ser1404=
ENST00000225964.9:c.4210A=	ENSP00000225964.5:p.Ser1404=
NM_000088.3:c.4210A= , LRG_1t1:c.4210A=	NP_000079.2:p.Ser1404=
XM_005257058.3:c.3940A=	XP_005257115.2:p.Ser1314=
XM_005257059.3:c.3292A=	XP_005257116.2:p.Ser1098=
XM_011524341.1:c.4012A=	XP_011522643.1:p.Ser1338=
XM_005257058.4:c.3940A=	XP_005257115.2:p.Ser1314=
XM_005257059.4:c.3292A=	XP_005257116.2:p.Ser1098=
NM_000088.4:c.4210A= MANE Select	NP_000079.2:p.Ser1404=