Canonical Allele Identifier: CA2638708854

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50192437-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192437T>C , CM000679.2:g.50192437T>C	GRCh38
NC_000017.10:g.48269798T>C , CM000679.1:g.48269798T>C	GRCh37
NC_000017.9:g.45624797T>C	NCBI36
NG_007400.1:g.14203A>G , LRG_1:g.14203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1983+38A>G MANE Select	ENSP00000225964.6:n.1983+38A>G
ENST00000225964.9:c.1983+38A>G	ENSP00000225964.5:n.1983+38A>G
ENST00000476387.1:n.332+38A>G
ENST00000504289.1:n.3A>G
NM_000088.3:c.1983+38A>G , LRG_1t1:c.1983+38A>G	NP_000079.2:n.1983+38A>G
XM_005257058.3:c.1983+38A>G	XP_005257115.2:n.1983+38A>G
XM_005257059.3:c.1065+38A>G	XP_005257116.2:n.1065+38A>G
XM_011524341.1:c.1785+38A>G	XP_011522643.1:n.1785+38A>G
XM_005257058.4:c.1983+38A>G	XP_005257115.2:n.1983+38A>G
XM_005257059.4:c.1065+38A>G	XP_005257116.2:n.1065+38A>G
NM_000088.4:c.1983+38A>G MANE Select	NP_000079.2:n.1983+38A>G