Canonical Allele Identifier: CA291542848

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186355G>A , CM000679.2:g.50186355G>A	GRCh38
NC_000017.10:g.48263716G>A , CM000679.1:g.48263716G>A	GRCh37
NC_000017.9:g.45618715G>A	NCBI36
NG_007400.1:g.20285C>T , LRG_1:g.20285C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3967C>T MANE Select	NP_000079.2:p.His1323Tyr
ENST00000225964.10:c.3967C>T MANE Select	ENSP00000225964.6:p.His1323Tyr
NM_000088.3:c.3967C>T , LRG_1t1:c.3967C>T	NP_000079.2:p.His1323Tyr
ENST00000225964.9:c.3967C>T	ENSP00000225964.5:p.His1323Tyr
ENST00000510710.3:n.636C>T
XM_005257058.3:c.3697C>T	XP_005257115.2:p.His1233Tyr
XM_005257058.4:c.3697C>T	XP_005257115.2:p.His1233Tyr
XM_005257059.3:c.3049C>T	XP_005257116.2:p.His1017Tyr
XM_005257059.4:c.3049C>T	XP_005257116.2:p.His1017Tyr
XM_011524341.1:c.3769C>T	XP_011522643.1:p.His1257Tyr