Canonical Allele Identifier: CA2263914995

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188128G= , CM000679.2:g.50188128G=	GRCh38
NC_000017.10:g.48265489G= , CM000679.1:g.48265489G=	GRCh37
NC_000017.9:g.45620488G=	NCBI36
NG_007400.1:g.18512C= , LRG_1:g.18512C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3229C= MANE Select	ENSP00000225964.6:p.Pro1077=
ENST00000225964.9:c.3229C=	ENSP00000225964.5:p.Pro1077=
ENST00000486572.1:n.427C=
ENST00000511732.1:n.553C=
NM_000088.3:c.3229C= , LRG_1t1:c.3229C=	NP_000079.2:p.Pro1077=
XM_005257058.3:c.2959C=	XP_005257115.2:p.Pro987=
XM_005257059.3:c.2311C=	XP_005257116.2:p.Pro771=
XM_011524341.1:c.3031C=	XP_011522643.1:p.Pro1011=
XM_005257058.4:c.2959C=	XP_005257115.2:p.Pro987=
XM_005257059.4:c.2311C=	XP_005257116.2:p.Pro771=
NM_000088.4:c.3229C= MANE Select	NP_000079.2:p.Pro1077=