Canonical Allele Identifier: CA400205593

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48266782C>A (hg19) ; chr17:g.50189421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189421C>A , CM000679.2:g.50189421C>A	GRCh38
NC_000017.10:g.48266782C>A , CM000679.1:g.48266782C>A	GRCh37
NC_000017.9:g.45621781C>A	NCBI36
NG_007400.1:g.17219G>T , LRG_1:g.17219G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2785G>T MANE Select	ENSP00000225964.6:p.Gly929Cys
ENST00000225964.9:c.2785G>T	ENSP00000225964.5:p.Gly929Cys
NM_000088.3:c.2785G>T , LRG_1t1:c.2785G>T	NP_000079.2:p.Gly929Cys
XM_005257058.3:c.2667+258G>T	XP_005257115.2:n.2667+258G>T
XM_005257059.3:c.1867G>T	XP_005257116.2:p.Gly623Cys
XM_011524341.1:c.2587G>T	XP_011522643.1:p.Gly863Cys
XM_005257058.4:c.2667+258G>T	XP_005257115.2:n.2667+258G>T
XM_005257059.4:c.1867G>T	XP_005257116.2:p.Gly623Cys
NM_000088.4:c.2785G>T MANE Select	NP_000079.2:p.Gly929Cys