Canonical Allele Identifier: CA500991805

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186869A>G , CM000679.2:g.50186869A>G	GRCh38
NC_000017.10:g.48264230A>G , CM000679.1:g.48264230A>G	GRCh37
NC_000017.9:g.45619229A>G	NCBI36
NG_007400.1:g.19771T>C , LRG_1:g.19771T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3585T>C MANE Select	NP_000079.2:p.Gly1195=
ENST00000225964.10:c.3585T>C MANE Select	ENSP00000225964.6:p.Gly1195=
NM_000088.3:c.3585T>C , LRG_1t1:c.3585T>C	NP_000079.2:p.Gly1195=
ENST00000225964.9:c.3585T>C	ENSP00000225964.5:p.Gly1195=
ENST00000510710.3:n.254T>C
XM_005257058.3:c.3315T>C	XP_005257115.2:p.Gly1105=
XM_005257058.4:c.3315T>C	XP_005257115.2:p.Gly1105=
XM_005257059.3:c.2667T>C	XP_005257116.2:p.Gly889=
XM_005257059.4:c.2667T>C	XP_005257116.2:p.Gly889=
XM_011524341.1:c.3387T>C	XP_011522643.1:p.Gly1129=