Canonical Allele Identifier: CA8645485

Gene: COL1A1

Linked Data

• dbSNP Id: rs758651522
• ExAC: 17:48273675 A / G
• gnomAD v2: 17-48273675-A-G
• gnomAD v4: 17-50196314-A-G
• MyVariant Identifiers: chr17:g.48273675A>G (hg19) ; chr17:g.50196314A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196314A>G , CM000679.2:g.50196314A>G	GRCh38
NC_000017.10:g.48273675A>G , CM000679.1:g.48273675A>G	GRCh37
NC_000017.9:g.45628674A>G	NCBI36
NG_007400.1:g.10326T>C , LRG_1:g.10326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957T>C MANE Select	ENSP00000225964.6:p.Ala319=
ENST00000225964.9:c.957T>C	ENSP00000225964.5:p.Ala319=
ENST00000485870.1:n.282T>C
NM_000088.3:c.957T>C , LRG_1t1:c.957T>C	NP_000079.2:p.Ala319=
XM_005257058.3:c.957T>C	XP_005257115.2:p.Ala319=
XM_005257059.3:c.957T>C	XP_005257116.2:p.Ala319=
XM_011524341.1:c.957T>C	XP_011522643.1:p.Ala319=
XM_005257058.4:c.957T>C	XP_005257115.2:p.Ala319=
XM_005257059.4:c.957T>C	XP_005257116.2:p.Ala319=
NM_000088.4:c.957T>C MANE Select	NP_000079.2:p.Ala319=