Canonical Allele Identifier: CA626689137

Gene: COL1A1

Linked Data

• dbSNP Id: rs1480384212
• gnomAD v2: 17-48276757-C-G
• MyVariant Identifiers: chr17:g.48276757C>G (hg19) ; chr17:g.50199396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199396C>G , CM000679.2:g.50199396C>G	GRCh38
NC_000017.10:g.48276757C>G , CM000679.1:g.48276757C>G	GRCh37
NC_000017.9:g.45631756C>G	NCBI36
NG_007400.1:g.7244G>C , LRG_1:g.7244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.369+22G>C MANE Select	ENSP00000225964.6:n.369+22G>C
ENST00000225964.9:c.369+22G>C	ENSP00000225964.5:n.369+22G>C
ENST00000474644.1:n.590+22G>C
ENST00000507689.1:c.423+22G>C	ENSP00000460459.1:n.423+22G>C
NM_000088.3:c.369+22G>C , LRG_1t1:c.369+22G>C	NP_000079.2:n.369+22G>C
XM_005257058.3:c.369+22G>C	XP_005257115.2:n.369+22G>C
XM_005257059.3:c.369+22G>C	XP_005257116.2:n.369+22G>C
XM_011524341.1:c.369+22G>C	XP_011522643.1:n.369+22G>C
XM_005257058.4:c.369+22G>C	XP_005257115.2:n.369+22G>C
XM_005257059.4:c.369+22G>C	XP_005257116.2:n.369+22G>C
NM_000088.4:c.369+22G>C MANE Select	NP_000079.2:n.369+22G>C