Canonical Allele Identifier: CA626689547

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2741495
• ClinVar RCV Id: RCV003516712
• dbSNP Id: rs1182706124
• gnomAD v2: 17-48271547-A-G
• gnomAD v4: 17-50194186-A-G
• MyVariant Identifiers: chr17:g.48271547A>G (hg19) ; chr17:g.50194186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194186A>G , CM000679.2:g.50194186A>G	GRCh38
NC_000017.10:g.48271547A>G , CM000679.1:g.48271547A>G	GRCh37
NC_000017.9:g.45626546A>G	NCBI36
NG_007400.1:g.12454T>C , LRG_1:g.12454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1615-3T>C MANE Select	ENSP00000225964.6:n.1615-3T>C
ENST00000225964.9:c.1615-3T>C	ENSP00000225964.5:n.1615-3T>C
ENST00000463440.1:n.5-3T>C
ENST00000471344.1:n.559-3T>C
NM_000088.3:c.1615-3T>C , LRG_1t1:c.1615-3T>C	NP_000079.2:n.1615-3T>C
XM_005257058.3:c.1615-3T>C	XP_005257115.2:n.1615-3T>C
XM_005257059.3:c.958-1493T>C	XP_005257116.2:n.958-1493T>C
XM_011524341.1:c.1417-3T>C	XP_011522643.1:n.1417-3T>C
XM_005257058.4:c.1615-3T>C	XP_005257115.2:n.1615-3T>C
XM_005257059.4:c.958-1493T>C	XP_005257116.2:n.958-1493T>C
NM_000088.4:c.1615-3T>C MANE Select	NP_000079.2:n.1615-3T>C