Canonical Allele Identifier: CA2638680036

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198570-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198570T>C , CM000679.2:g.50198570T>C	GRCh38
NC_000017.10:g.48275931T>C , CM000679.1:g.48275931T>C	GRCh37
NC_000017.9:g.45630930T>C	NCBI36
NG_007400.1:g.8070A>G , LRG_1:g.8070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-66A>G MANE Select	ENSP00000225964.6:n.472-66A>G
ENST00000225964.9:c.472-66A>G	ENSP00000225964.5:n.472-66A>G
ENST00000495677.1:n.133A>G
NM_000088.3:c.472-66A>G , LRG_1t1:c.472-66A>G	NP_000079.2:n.472-66A>G
XM_005257058.3:c.472-66A>G	XP_005257115.2:n.472-66A>G
XM_005257059.3:c.472-66A>G	XP_005257116.2:n.472-66A>G
XM_011524341.1:c.472-66A>G	XP_011522643.1:n.472-66A>G
XM_005257058.4:c.472-66A>G	XP_005257115.2:n.472-66A>G
XM_005257059.4:c.472-66A>G	XP_005257116.2:n.472-66A>G
NM_000088.4:c.472-66A>G MANE Select	NP_000079.2:n.472-66A>G