Canonical Allele Identifier: CA500851236

Gene: COL1A1

Linked Data

• dbSNP Id: rs1598298058
• MyVariant Identifiers: chr17:g.48273558A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196197A>C , CM000679.2:g.50196197A>C	GRCh38
NC_000017.10:g.48273558A>C , CM000679.1:g.48273558A>C	GRCh37
NC_000017.9:g.45628557A>C	NCBI36
NG_007400.1:g.10443T>G , LRG_1:g.10443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.960T>G MANE Select	ENSP00000225964.6:p.Gly320=
ENST00000225964.9:c.960T>G	ENSP00000225964.5:p.Gly320=
ENST00000485870.1:n.285T>G
NM_000088.3:c.960T>G , LRG_1t1:c.960T>G	NP_000079.2:p.Gly320=
XM_005257058.3:c.960T>G	XP_005257115.2:p.Gly320=
XM_005257059.3:c.957+117T>G	XP_005257116.2:n.957+117T>G
XM_011524341.1:c.957+117T>G	XP_011522643.1:n.957+117T>G
XM_005257058.4:c.960T>G	XP_005257115.2:p.Gly320=
XM_005257059.4:c.957+117T>G	XP_005257116.2:n.957+117T>G
NM_000088.4:c.960T>G MANE Select	NP_000079.2:p.Gly320=