Canonical Allele Identifier: CA500849863

Gene: COL1A1

Linked Data

• dbSNP Id: rs1598296101
• MyVariant Identifiers: chr17:g.48272097T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194736T>G , CM000679.2:g.50194736T>G	GRCh38
NC_000017.10:g.48272097T>G , CM000679.1:g.48272097T>G	GRCh37
NC_000017.9:g.45627096T>G	NCBI36
NG_007400.1:g.11904A>C , LRG_1:g.11904A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1446A>C MANE Select	ENSP00000225964.6:p.Gly482=
ENST00000225964.9:c.1446A>C	ENSP00000225964.5:p.Gly482=
ENST00000471344.1:n.390A>C
NM_000088.3:c.1446A>C , LRG_1t1:c.1446A>C	NP_000079.2:p.Gly482=
XM_005257058.3:c.1446A>C	XP_005257115.2:p.Gly482=
XM_005257059.3:c.957+1578A>C	XP_005257116.2:n.957+1578A>C
XM_011524341.1:c.1248A>C	XP_011522643.1:p.Gly416=
XM_005257058.4:c.1446A>C	XP_005257115.2:p.Gly482=
XM_005257059.4:c.957+1578A>C	XP_005257116.2:n.957+1578A>C
NM_000088.4:c.1446A>C MANE Select	NP_000079.2:p.Gly482=