Canonical Allele Identifier: CA400193742

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186451A>C , CM000679.2:g.50186451A>C	GRCh38
NC_000017.10:g.48263812A>C , CM000679.1:g.48263812A>C	GRCh37
NC_000017.9:g.45618811A>C	NCBI36
NG_007400.1:g.20189T>G , LRG_1:g.20189T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3871T>G MANE Select	NP_000079.2:p.Cys1291Gly
ENST00000225964.10:c.3871T>G MANE Select	ENSP00000225964.6:p.Cys1291Gly
NM_000088.3:c.3871T>G , LRG_1t1:c.3871T>G	NP_000079.2:p.Cys1291Gly
ENST00000225964.9:c.3871T>G	ENSP00000225964.5:p.Cys1291Gly
ENST00000510710.3:n.540T>G
XM_005257058.3:c.3601T>G	XP_005257115.2:p.Cys1201Gly
XM_005257058.4:c.3601T>G	XP_005257115.2:p.Cys1201Gly
XM_005257059.3:c.2953T>G	XP_005257116.2:p.Cys985Gly
XM_005257059.4:c.2953T>G	XP_005257116.2:p.Cys985Gly
XM_011524341.1:c.3673T>G	XP_011522643.1:p.Cys1225Gly