Canonical Allele Identifier: CA291542997

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187912A>G , CM000679.2:g.50187912A>G	GRCh38
NC_000017.10:g.48265273A>G , CM000679.1:g.48265273A>G	GRCh37
NC_000017.9:g.45620272A>G	NCBI36
NG_007400.1:g.18728T>C , LRG_1:g.18728T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3333T>C MANE Select	NP_000079.2:p.Arg1111=
ENST00000225964.10:c.3333T>C MANE Select	ENSP00000225964.6:p.Arg1111=
NM_000088.3:c.3333T>C , LRG_1t1:c.3333T>C	NP_000079.2:p.Arg1111=
ENST00000225964.9:c.3333T>C	ENSP00000225964.5:p.Arg1111=
ENST00000486572.1:n.531T>C
ENST00000511732.1:n.769T>C
XM_005257058.3:c.3063T>C	XP_005257115.2:p.Arg1021=
XM_005257058.4:c.3063T>C	XP_005257115.2:p.Arg1021=
XM_005257059.3:c.2415T>C	XP_005257116.2:p.Arg805=
XM_005257059.4:c.2415T>C	XP_005257116.2:p.Arg805=
XM_011524341.1:c.3135T>C	XP_011522643.1:p.Arg1045=