Canonical Allele Identifier: CA8645141

Gene: COL1A1

Linked Data

• dbSNP Id: rs756482025
• ExAC: 17:48271400 A / C
• gnomAD v2: 17-48271400-A-C
• gnomAD v4: 17-50194039-A-C
• MyVariant Identifiers: chr17:g.48271400A>C (hg19) ; chr17:g.50194039A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194039A>C , CM000679.2:g.50194039A>C	GRCh38
NC_000017.10:g.48271400A>C , CM000679.1:g.48271400A>C	GRCh37
NC_000017.9:g.45626399A>C	NCBI36
NG_007400.1:g.12601T>G , LRG_1:g.12601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1671T>G MANE Select	ENSP00000225964.6:p.Gly557=
ENST00000225964.9:c.1671T>G	ENSP00000225964.5:p.Gly557=
ENST00000463440.1:n.61T>G
ENST00000471344.1:n.703T>G
ENST00000476387.1:n.20T>G
NM_000088.3:c.1671T>G , LRG_1t1:c.1671T>G	NP_000079.2:p.Gly557=
XM_005257058.3:c.1671T>G	XP_005257115.2:p.Gly557=
XM_005257059.3:c.958-1346T>G	XP_005257116.2:n.958-1346T>G
XM_011524341.1:c.1473T>G	XP_011522643.1:p.Gly491=
XM_005257058.4:c.1671T>G	XP_005257115.2:p.Gly557=
XM_005257059.4:c.958-1346T>G	XP_005257116.2:n.958-1346T>G
NM_000088.4:c.1671T>G MANE Select	NP_000079.2:p.Gly557=