Canonical Allele Identifier: CA2263913905

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185878T= , CM000679.2:g.50185878T=	GRCh38
NC_000017.10:g.48263239T= , CM000679.1:g.48263239T=	GRCh37
NC_000017.9:g.45618238T=	NCBI36
NG_007400.1:g.20762A= , LRG_1:g.20762A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4148A= MANE Select	ENSP00000225964.6:p.Asn1383=
ENST00000225964.9:c.4148A=	ENSP00000225964.5:p.Asn1383=
ENST00000510710.3:n.1113A=
NM_000088.3:c.4148A= , LRG_1t1:c.4148A=	NP_000079.2:p.Asn1383=
XM_005257058.3:c.3878A=	XP_005257115.2:p.Asn1293=
XM_005257059.3:c.3230A=	XP_005257116.2:p.Asn1077=
XM_011524341.1:c.3950A=	XP_011522643.1:p.Asn1317=
XM_005257058.4:c.3878A=	XP_005257115.2:p.Asn1293=
XM_005257059.4:c.3230A=	XP_005257116.2:p.Asn1077=
NM_000088.4:c.4148A= MANE Select	NP_000079.2:p.Asn1383=