Canonical Allele Identifier: CA8644364

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186700G>A , CM000679.2:g.50186700G>A	GRCh38
NC_000017.10:g.48264061G>A , CM000679.1:g.48264061G>A	GRCh37
NC_000017.9:g.45619060G>A	NCBI36
NG_007400.1:g.19940C>T , LRG_1:g.19940C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3754C>T MANE Select	NP_000079.2:p.Arg1252Cys
ENST00000225964.10:c.3754C>T MANE Select	ENSP00000225964.6:p.Arg1252Cys
NM_000088.3:c.3754C>T , LRG_1t1:c.3754C>T	NP_000079.2:p.Arg1252Cys
ENST00000225964.9:c.3754C>T	ENSP00000225964.5:p.Arg1252Cys
ENST00000510710.3:n.423C>T
XM_005257058.3:c.3484C>T	XP_005257115.2:p.Arg1162Cys
XM_005257058.4:c.3484C>T	XP_005257115.2:p.Arg1162Cys
XM_005257059.3:c.2836C>T	XP_005257116.2:p.Arg946Cys
XM_005257059.4:c.2836C>T	XP_005257116.2:p.Arg946Cys
XM_011524341.1:c.3556C>T	XP_011522643.1:p.Arg1186Cys