Canonical Allele Identifier: CA2263917362

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193121C= , CM000679.2:g.50193121C=	GRCh38
NC_000017.10:g.48270482C= , CM000679.1:g.48270482C=	GRCh37
NC_000017.9:g.45625481C=	NCBI36
NG_007400.1:g.13519G= , LRG_1:g.13519G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-74G= MANE Select	ENSP00000225964.6:n.1768-74G=
ENST00000225964.9:c.1768-74G=	ENSP00000225964.5:n.1768-74G=
ENST00000476387.1:n.117-74G=
NM_000088.3:c.1768-74G= , LRG_1t1:c.1768-74G=	NP_000079.2:n.1768-74G=
XM_005257058.3:c.1768-74G=	XP_005257115.2:n.1768-74G=
XM_005257059.3:c.958-428G=	XP_005257116.2:n.958-428G=
XM_011524341.1:c.1570-74G=	XP_011522643.1:n.1570-74G=
XM_005257058.4:c.1768-74G=	XP_005257115.2:n.1768-74G=
XM_005257059.4:c.958-428G=	XP_005257116.2:n.958-428G=
NM_000088.4:c.1768-74G= MANE Select	NP_000079.2:n.1768-74G=