Canonical Allele Identifier: CA400194038

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186507C>A , CM000679.2:g.50186507C>A	GRCh38
NC_000017.10:g.48263868C>A , CM000679.1:g.48263868C>A	GRCh37
NC_000017.9:g.45618867C>A	NCBI36
NG_007400.1:g.20133G>T , LRG_1:g.20133G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3815G>T MANE Select	ENSP00000225964.6:p.Gly1272Val
ENST00000225964.9:c.3815G>T	ENSP00000225964.5:p.Gly1272Val
ENST00000510710.3:n.484G>T
NM_000088.3:c.3815G>T , LRG_1t1:c.3815G>T	NP_000079.2:p.Gly1272Val
XM_005257058.3:c.3545G>T	XP_005257115.2:p.Gly1182Val
XM_005257059.3:c.2897G>T	XP_005257116.2:p.Gly966Val
XM_011524341.1:c.3617G>T	XP_011522643.1:p.Gly1206Val
XM_005257058.4:c.3545G>T	XP_005257115.2:p.Gly1182Val
XM_005257059.4:c.2897G>T	XP_005257116.2:p.Gly966Val
NM_000088.4:c.3815G>T MANE Select	NP_000079.2:p.Gly1272Val