Canonical Allele Identifier: CA291544534

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 847550
• ClinVar RCV Id: RCV001051120
• dbSNP Id: rs66555264
• MyVariant Identifiers: chr17:g.48270354C>A (hg19) ; chr17:g.50192993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192993C>A , CM000679.2:g.50192993C>A	GRCh38
NC_000017.10:g.48270354C>A , CM000679.1:g.48270354C>A	GRCh37
NC_000017.9:g.45625353C>A	NCBI36
NG_007400.1:g.13647G>T , LRG_1:g.13647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+1G>T MANE Select	ENSP00000225964.6:n.1821+1G>T
ENST00000225964.9:c.1821+1G>T	ENSP00000225964.5:n.1821+1G>T
ENST00000476387.1:n.170+1G>T
NM_000088.3:c.1821+1G>T , LRG_1t1:c.1821+1G>T	NP_000079.2:n.1821+1G>T
XM_005257058.3:c.1821+1G>T	XP_005257115.2:n.1821+1G>T
XM_005257059.3:c.958-300G>T	XP_005257116.2:n.958-300G>T
XM_011524341.1:c.1623+1G>T	XP_011522643.1:n.1623+1G>T
XM_005257058.4:c.1821+1G>T	XP_005257115.2:n.1821+1G>T
XM_005257059.4:c.958-300G>T	XP_005257116.2:n.958-300G>T
NM_000088.4:c.1821+1G>T MANE Select	NP_000079.2:n.1821+1G>T