Canonical Allele Identifier: CA400192256

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185923T>C , CM000679.2:g.50185923T>C	GRCh38
NC_000017.10:g.48263284T>C , CM000679.1:g.48263284T>C	GRCh37
NC_000017.9:g.45618283T>C	NCBI36
NG_007400.1:g.20717A>G , LRG_1:g.20717A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4103A>G MANE Select	NP_000079.2:p.Tyr1368Cys
ENST00000225964.10:c.4103A>G MANE Select	ENSP00000225964.6:p.Tyr1368Cys
NM_000088.3:c.4103A>G , LRG_1t1:c.4103A>G	NP_000079.2:p.Tyr1368Cys
ENST00000225964.9:c.4103A>G	ENSP00000225964.5:p.Tyr1368Cys
ENST00000510710.3:n.1068A>G
XM_005257058.3:c.3833A>G	XP_005257115.2:p.Tyr1278Cys
XM_005257058.4:c.3833A>G	XP_005257115.2:p.Tyr1278Cys
XM_005257059.3:c.3185A>G	XP_005257116.2:p.Tyr1062Cys
XM_005257059.4:c.3185A>G	XP_005257116.2:p.Tyr1062Cys
XM_011524341.1:c.3905A>G	XP_011522643.1:p.Tyr1302Cys