Canonical Allele Identifier: CA400193563

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186419G>T , CM000679.2:g.50186419G>T	GRCh38
NC_000017.10:g.48263780G>T , CM000679.1:g.48263780G>T	GRCh37
NC_000017.9:g.45618779G>T	NCBI36
NG_007400.1:g.20221C>A , LRG_1:g.20221C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3903C>A MANE Select	NP_000079.2:p.Tyr1301Ter
ENST00000225964.10:c.3903C>A MANE Select	ENSP00000225964.6:p.Tyr1301Ter
NM_000088.3:c.3903C>A , LRG_1t1:c.3903C>A	NP_000079.2:p.Tyr1301Ter
ENST00000225964.9:c.3903C>A	ENSP00000225964.5:p.Tyr1301Ter
ENST00000510710.3:n.572C>A
XM_005257058.3:c.3633C>A	XP_005257115.2:p.Tyr1211Ter
XM_005257058.4:c.3633C>A	XP_005257115.2:p.Tyr1211Ter
XM_005257059.3:c.2985C>A	XP_005257116.2:p.Tyr995Ter
XM_005257059.4:c.2985C>A	XP_005257116.2:p.Tyr995Ter
XM_011524341.1:c.3705C>A	XP_011522643.1:p.Tyr1235Ter