Canonical Allele Identifier: CA2263913919

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185910G= , CM000679.2:g.50185910G=	GRCh38
NC_000017.10:g.48263271G= , CM000679.1:g.48263271G=	GRCh37
NC_000017.9:g.45618270G=	NCBI36
NG_007400.1:g.20730C= , LRG_1:g.20730C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4116C= MANE Select	ENSP00000225964.6:p.Asn1372=
ENST00000225964.9:c.4116C=	ENSP00000225964.5:p.Asn1372=
ENST00000510710.3:n.1081C=
NM_000088.3:c.4116C= , LRG_1t1:c.4116C=	NP_000079.2:p.Asn1372=
XM_005257058.3:c.3846C=	XP_005257115.2:p.Asn1282=
XM_005257059.3:c.3198C=	XP_005257116.2:p.Asn1066=
XM_011524341.1:c.3918C=	XP_011522643.1:p.Asn1306=
XM_005257058.4:c.3846C=	XP_005257115.2:p.Asn1282=
XM_005257059.4:c.3198C=	XP_005257116.2:p.Asn1066=
NM_000088.4:c.4116C= MANE Select	NP_000079.2:p.Asn1372=