Canonical Allele Identifier: CA8645804

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 526852
• ClinVar RCV Id: RCV000631478 ; RCV001128045 ; RCV001591407 ; RCV002431861 ; RCV001128044 ; RCV001128046
• dbSNP Id: rs775095655
• ExAC: 17:48277161 G / C
• gnomAD v2: 17-48277161-G-C
• gnomAD v4: 17-50199800-G-C
• MyVariant Identifiers: chr17:g.48277161G>C (hg19) ; chr17:g.50199800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199800G>C , CM000679.2:g.50199800G>C	GRCh38
NC_000017.10:g.48277161G>C , CM000679.1:g.48277161G>C	GRCh37
NC_000017.9:g.45632160G>C	NCBI36
NG_007400.1:g.6840C>G , LRG_1:g.6840C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.251C>G MANE Select	ENSP00000225964.6:p.Ala84Gly
ENST00000225964.9:c.251C>G	ENSP00000225964.5:p.Ala84Gly
ENST00000474644.1:n.370C>G
ENST00000507689.1:c.305C>G	ENSP00000460459.1:p.Ala102Gly
NM_000088.3:c.251C>G , LRG_1t1:c.251C>G	NP_000079.2:p.Ala84Gly
XM_005257058.3:c.251C>G	XP_005257115.2:p.Ala84Gly
XM_005257059.3:c.251C>G	XP_005257116.2:p.Ala84Gly
XM_011524341.1:c.251C>G	XP_011522643.1:p.Ala84Gly
XM_005257058.4:c.251C>G	XP_005257115.2:p.Ala84Gly
XM_005257059.4:c.251C>G	XP_005257116.2:p.Ala84Gly
NM_000088.4:c.251C>G MANE Select	NP_000079.2:p.Ala84Gly