Canonical Allele Identifier: CA2638704609

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185764-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185764T>C , CM000679.2:g.50185764T>C	GRCh38
NC_000017.10:g.48263125T>C , CM000679.1:g.48263125T>C	GRCh37
NC_000017.9:g.45618124T>C	NCBI36
NG_007400.1:g.20876A>G , LRG_1:g.20876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4248+14A>G MANE Select	ENSP00000225964.6:n.4248+14A>G
ENST00000225964.9:c.4248+14A>G	ENSP00000225964.5:n.4248+14A>G
NM_000088.3:c.4248+14A>G , LRG_1t1:c.4248+14A>G	NP_000079.2:n.4248+14A>G
XM_005257058.3:c.3978+14A>G	XP_005257115.2:n.3978+14A>G
XM_005257059.3:c.3330+14A>G	XP_005257116.2:n.3330+14A>G
XM_011524341.1:c.4050+14A>G	XP_011522643.1:n.4050+14A>G
XM_005257058.4:c.3978+14A>G	XP_005257115.2:n.3978+14A>G
XM_005257059.4:c.3330+14A>G	XP_005257116.2:n.3330+14A>G
NM_000088.4:c.4248+14A>G MANE Select	NP_000079.2:n.4248+14A>G