Canonical Allele Identifier: CA400193990

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186498C>T , CM000679.2:g.50186498C>T	GRCh38
NC_000017.10:g.48263859C>T , CM000679.1:g.48263859C>T	GRCh37
NC_000017.9:g.45618858C>T	NCBI36
NG_007400.1:g.20142G>A , LRG_1:g.20142G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3824G>A MANE Select	NP_000079.2:p.Trp1275Ter
ENST00000225964.10:c.3824G>A MANE Select	ENSP00000225964.6:p.Trp1275Ter
NM_000088.3:c.3824G>A , LRG_1t1:c.3824G>A	NP_000079.2:p.Trp1275Ter
ENST00000225964.9:c.3824G>A	ENSP00000225964.5:p.Trp1275Ter
ENST00000510710.3:n.493G>A
XM_005257058.3:c.3554G>A	XP_005257115.2:p.Trp1185Ter
XM_005257058.4:c.3554G>A	XP_005257115.2:p.Trp1185Ter
XM_005257059.3:c.2906G>A	XP_005257116.2:p.Trp969Ter
XM_005257059.4:c.2906G>A	XP_005257116.2:p.Trp969Ter
XM_011524341.1:c.3626G>A	XP_011522643.1:p.Trp1209Ter