Canonical Allele Identifier: CA2263917610

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192816T= , CM000679.2:g.50192816T=	GRCh38
NC_000017.10:g.48270177T= , CM000679.1:g.48270177T=	GRCh37
NC_000017.9:g.45625176T=	NCBI36
NG_007400.1:g.13824A= , LRG_1:g.13824A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1856A= MANE Select	ENSP00000225964.6:p.Gln619=
ENST00000225964.9:c.1856A=	ENSP00000225964.5:p.Gln619=
ENST00000476387.1:n.205A=
NM_000088.3:c.1856A= , LRG_1t1:c.1856A=	NP_000079.2:p.Gln619=
XM_005257058.3:c.1856A=	XP_005257115.2:p.Gln619=
XM_005257059.3:c.958-123A=	XP_005257116.2:n.958-123A=
XM_011524341.1:c.1658A=	XP_011522643.1:p.Gln553=
XM_005257058.4:c.1856A=	XP_005257115.2:p.Gln619=
XM_005257059.4:c.958-123A=	XP_005257116.2:n.958-123A=
NM_000088.4:c.1856A= MANE Select	NP_000079.2:p.Gln619=