Canonical Allele Identifier: CA400197506

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186807T>C , CM000679.2:g.50186807T>C	GRCh38
NC_000017.10:g.48264168T>C , CM000679.1:g.48264168T>C	GRCh37
NC_000017.9:g.45619167T>C	NCBI36
NG_007400.1:g.19833A>G , LRG_1:g.19833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3647A>G MANE Select	ENSP00000225964.6:p.Tyr1216Cys
ENST00000225964.9:c.3647A>G	ENSP00000225964.5:p.Tyr1216Cys
ENST00000510710.3:n.316A>G
NM_000088.3:c.3647A>G , LRG_1t1:c.3647A>G	NP_000079.2:p.Tyr1216Cys
XM_005257058.3:c.3377A>G	XP_005257115.2:p.Tyr1126Cys
XM_005257059.3:c.2729A>G	XP_005257116.2:p.Tyr910Cys
XM_011524341.1:c.3449A>G	XP_011522643.1:p.Tyr1150Cys
XM_005257058.4:c.3377A>G	XP_005257115.2:p.Tyr1126Cys
XM_005257059.4:c.2729A>G	XP_005257116.2:p.Tyr910Cys
NM_000088.4:c.3647A>G MANE Select	NP_000079.2:p.Tyr1216Cys