Canonical Allele Identifier: CA2263913705

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185556A= , CM000679.2:g.50185556A=	GRCh38
NC_000017.10:g.48262917A= , CM000679.1:g.48262917A=	GRCh37
NC_000017.9:g.45617916A=	NCBI36
NG_007400.1:g.21084T= , LRG_1:g.21084T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4341T= MANE Select	ENSP00000225964.6:p.Val1447=
ENST00000225964.9:c.4341T=	ENSP00000225964.5:p.Val1447=
NM_000088.3:c.4341T= , LRG_1t1:c.4341T=	NP_000079.2:p.Val1447=
XM_005257058.3:c.4071T=	XP_005257115.2:p.Val1357=
XM_005257059.3:c.3423T=	XP_005257116.2:p.Val1141=
XM_011524341.1:c.4143T=	XP_011522643.1:p.Val1381=
XM_005257058.4:c.4071T=	XP_005257115.2:p.Val1357=
XM_005257059.4:c.3423T=	XP_005257116.2:p.Val1141=
NM_000088.4:c.4341T= MANE Select	NP_000079.2:p.Val1447=