Canonical Allele Identifier: CA291548110

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197984C>G , CM000679.2:g.50197984C>G	GRCh38
NC_000017.10:g.48275345C>G , CM000679.1:g.48275345C>G	GRCh37
NC_000017.9:g.45630344C>G	NCBI36
NG_007400.1:g.8656G>C , LRG_1:g.8656G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.607G>C MANE Select	NP_000079.2:p.Gly203Arg
ENST00000225964.10:c.607G>C MANE Select	ENSP00000225964.6:p.Gly203Arg
NM_000088.3:c.607G>C , LRG_1t1:c.607G>C	NP_000079.2:p.Gly203Arg
ENST00000225964.9:c.607G>C	ENSP00000225964.5:p.Gly203Arg
ENST00000495677.1:n.334G>C
XM_005257058.3:c.607G>C	XP_005257115.2:p.Gly203Arg
XM_005257058.4:c.607G>C	XP_005257115.2:p.Gly203Arg
XM_005257059.3:c.607G>C	XP_005257116.2:p.Gly203Arg
XM_005257059.4:c.607G>C	XP_005257116.2:p.Gly203Arg
XM_011524341.1:c.607G>C	XP_011522643.1:p.Gly203Arg