Canonical Allele Identifier: CA400212203

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191982T>A , CM000679.2:g.50191982T>A	GRCh38
NC_000017.10:g.48269343T>A , CM000679.1:g.48269343T>A	GRCh37
NC_000017.9:g.45624342T>A	NCBI36
NG_007400.1:g.14658A>T , LRG_1:g.14658A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2026A>T MANE Select	NP_000079.2:p.Arg676Ter
ENST00000225964.10:c.2026A>T MANE Select	ENSP00000225964.6:p.Arg676Ter
NM_000088.3:c.2026A>T , LRG_1t1:c.2026A>T	NP_000079.2:p.Arg676Ter
ENST00000225964.9:c.2026A>T	ENSP00000225964.5:p.Arg676Ter
ENST00000476387.1:n.375A>T
ENST00000504289.1:n.458A>T
XM_005257058.3:c.2026A>T	XP_005257115.2:p.Arg676Ter
XM_005257058.4:c.2026A>T	XP_005257115.2:p.Arg676Ter
XM_005257059.3:c.1108A>T	XP_005257116.2:p.Arg370Ter
XM_005257059.4:c.1108A>T	XP_005257116.2:p.Arg370Ter
XM_011524341.1:c.1828A>T	XP_011522643.1:p.Arg610Ter