Canonical Allele Identifier: CA174070

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187968G>A , CM000679.2:g.50187968G>A	GRCh38
NC_000017.10:g.48265329G>A , CM000679.1:g.48265329G>A	GRCh37
NC_000017.9:g.45620328G>A	NCBI36
NG_007400.1:g.18672C>T , LRG_1:g.18672C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3277C>T MANE Select	NP_000079.2:p.Arg1093Cys
ENST00000225964.10:c.3277C>T MANE Select	ENSP00000225964.6:p.Arg1093Cys
NM_000088.3:c.3277C>T , LRG_1t1:c.3277C>T	NP_000079.2:p.Arg1093Cys
ENST00000225964.9:c.3277C>T	ENSP00000225964.5:p.Arg1093Cys
ENST00000486572.1:n.475C>T
ENST00000511732.1:n.713C>T
XM_005257058.3:c.3007C>T	XP_005257115.2:p.Arg1003Cys
XM_005257058.4:c.3007C>T	XP_005257115.2:p.Arg1003Cys
XM_005257059.3:c.2359C>T	XP_005257116.2:p.Arg787Cys
XM_005257059.4:c.2359C>T	XP_005257116.2:p.Arg787Cys
XM_011524341.1:c.3079C>T	XP_011522643.1:p.Arg1027Cys