Canonical Allele Identifier: CA2263913571

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185354C= , CM000679.2:g.50185354C=	GRCh38
NC_000017.10:g.48262715C= , CM000679.1:g.48262715C=	GRCh37
NC_000017.9:g.45617714C=	NCBI36
NG_007400.1:g.21286G= , LRG_1:g.21286G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*148G= MANE Select	ENSP00000225964.6:n.*148G=
ENST00000225964.9:c.*148G=	ENSP00000225964.5:n.*148G=
NM_000088.3:c.*148G= , LRG_1t1:c.*148G=	NP_000079.2:n.*148G=
XM_005257058.3:c.*148G=	XP_005257115.2:n.*148G=
XM_005257059.3:c.*148G=	XP_005257116.2:n.*148G=
XM_011524341.1:c.*148G=	XP_011522643.1:n.*148G=
XM_005257058.4:c.*148G=	XP_005257115.2:n.*148G=
XM_005257059.4:c.*148G=	XP_005257116.2:n.*148G=
NM_000088.4:c.*148G= MANE Select	NP_000079.2:n.*148G=