Canonical Allele Identifier: CA400196414

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186696T>C , CM000679.2:g.50186696T>C	GRCh38
NC_000017.10:g.48264057T>C , CM000679.1:g.48264057T>C	GRCh37
NC_000017.9:g.45619056T>C	NCBI36
NG_007400.1:g.19944A>G , LRG_1:g.19944A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3758A>G MANE Select	NP_000079.2:p.Lys1253Arg
ENST00000225964.10:c.3758A>G MANE Select	ENSP00000225964.6:p.Lys1253Arg
NM_000088.3:c.3758A>G , LRG_1t1:c.3758A>G	NP_000079.2:p.Lys1253Arg
ENST00000225964.9:c.3758A>G	ENSP00000225964.5:p.Lys1253Arg
ENST00000510710.3:n.427A>G
XM_005257058.3:c.3488A>G	XP_005257115.2:p.Lys1163Arg
XM_005257058.4:c.3488A>G	XP_005257115.2:p.Lys1163Arg
XM_005257059.3:c.2840A>G	XP_005257116.2:p.Lys947Arg
XM_005257059.4:c.2840A>G	XP_005257116.2:p.Lys947Arg
XM_011524341.1:c.3560A>G	XP_011522643.1:p.Lys1187Arg