Canonical Allele Identifier: CA400191184

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263143C>T (hg19) ; chr17:g.50185782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185782C>T , CM000679.2:g.50185782C>T	GRCh38
NC_000017.10:g.48263143C>T , CM000679.1:g.48263143C>T	GRCh37
NC_000017.9:g.45618142C>T	NCBI36
NG_007400.1:g.20858G>A , LRG_1:g.20858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4244G>A MANE Select	ENSP00000225964.6:p.Cys1415Tyr
ENST00000225964.9:c.4244G>A	ENSP00000225964.5:p.Cys1415Tyr
NM_000088.3:c.4244G>A , LRG_1t1:c.4244G>A	NP_000079.2:p.Cys1415Tyr
XM_005257058.3:c.3974G>A	XP_005257115.2:p.Cys1325Tyr
XM_005257059.3:c.3326G>A	XP_005257116.2:p.Cys1109Tyr
XM_011524341.1:c.4046G>A	XP_011522643.1:p.Cys1349Tyr
XM_005257058.4:c.3974G>A	XP_005257115.2:p.Cys1325Tyr
XM_005257059.4:c.3326G>A	XP_005257116.2:p.Cys1109Tyr
NM_000088.4:c.4244G>A MANE Select	NP_000079.2:p.Cys1415Tyr