Canonical Allele Identifier: CA2638681237

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199145-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199145T>G , CM000679.2:g.50199145T>G	GRCh38
NC_000017.10:g.48276506T>G , CM000679.1:g.48276506T>G	GRCh37
NC_000017.9:g.45631505T>G	NCBI36
NG_007400.1:g.7495A>C , LRG_1:g.7495A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+81A>C MANE Select	ENSP00000225964.6:n.471+81A>C
ENST00000225964.9:c.471+81A>C	ENSP00000225964.5:n.471+81A>C
NM_000088.3:c.471+81A>C , LRG_1t1:c.471+81A>C	NP_000079.2:n.471+81A>C
XM_005257058.3:c.471+81A>C	XP_005257115.2:n.471+81A>C
XM_005257059.3:c.471+81A>C	XP_005257116.2:n.471+81A>C
XM_011524341.1:c.471+81A>C	XP_011522643.1:n.471+81A>C
XM_005257058.4:c.471+81A>C	XP_005257115.2:n.471+81A>C
XM_005257059.4:c.471+81A>C	XP_005257116.2:n.471+81A>C
NM_000088.4:c.471+81A>C MANE Select	NP_000079.2:n.471+81A>C