Canonical Allele Identifier: CA291543333

Gene: COL1A1

Linked Data

• dbSNP Id: rs908373333
• gnomAD v2: 17-48267597-T-C
• gnomAD v3: 17-50190236-T-C
• gnomAD v4: 17-50190236-T-C
• MyVariant Identifiers: chr17:g.48267597T>C (hg19) ; chr17:g.50190236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190236T>C , CM000679.2:g.50190236T>C	GRCh38
NC_000017.10:g.48267597T>C , CM000679.1:g.48267597T>C	GRCh37
NC_000017.9:g.45622596T>C	NCBI36
NG_007400.1:g.16404A>G , LRG_1:g.16404A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2451+91A>G MANE Select	ENSP00000225964.6:n.2451+91A>G
ENST00000225964.9:c.2451+91A>G	ENSP00000225964.5:n.2451+91A>G
NM_000088.3:c.2451+91A>G , LRG_1t1:c.2451+91A>G	NP_000079.2:n.2451+91A>G
XM_005257058.3:c.2451+91A>G	XP_005257115.2:n.2451+91A>G
XM_005257059.3:c.1533+91A>G	XP_005257116.2:n.1533+91A>G
XM_011524341.1:c.2253+91A>G	XP_011522643.1:n.2253+91A>G
XM_005257058.4:c.2451+91A>G	XP_005257115.2:n.2451+91A>G
XM_005257059.4:c.1533+91A>G	XP_005257116.2:n.1533+91A>G
NM_000088.4:c.2451+91A>G MANE Select	NP_000079.2:n.2451+91A>G