Canonical Allele Identifier: CA127146

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186386C>A , CM000679.2:g.50186386C>A	GRCh38
NC_000017.10:g.48263747C>A , CM000679.1:g.48263747C>A	GRCh37
NC_000017.9:g.45618746C>A	NCBI36
NG_007400.1:g.20254G>T , LRG_1:g.20254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3936G>T MANE Select	ENSP00000225964.6:p.Trp1312Cys
ENST00000225964.9:c.3936G>T	ENSP00000225964.5:p.Trp1312Cys
ENST00000510710.3:n.605G>T
NM_000088.3:c.3936G>T , LRG_1t1:c.3936G>T	NP_000079.2:p.Trp1312Cys
XM_005257058.3:c.3666G>T	XP_005257115.2:p.Trp1222Cys
XM_005257059.3:c.3018G>T	XP_005257116.2:p.Trp1006Cys
XM_011524341.1:c.3738G>T	XP_011522643.1:p.Trp1246Cys
XM_005257058.4:c.3666G>T	XP_005257115.2:p.Trp1222Cys
XM_005257059.4:c.3018G>T	XP_005257116.2:p.Trp1006Cys
NM_000088.4:c.3936G>T MANE Select	NP_000079.2:p.Trp1312Cys