Canonical Allele Identifier: CA2638676639

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50196100-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196100A>T , CM000679.2:g.50196100A>T	GRCh38
NC_000017.10:g.48273461A>T , CM000679.1:g.48273461A>T	GRCh37
NC_000017.9:g.45628460A>T	NCBI36
NG_007400.1:g.10540T>A , LRG_1:g.10540T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1002+55T>A MANE Select	ENSP00000225964.6:n.1002+55T>A
ENST00000225964.9:c.1002+55T>A	ENSP00000225964.5:n.1002+55T>A
ENST00000485870.1:n.382T>A
NM_000088.3:c.1002+55T>A , LRG_1t1:c.1002+55T>A	NP_000079.2:n.1002+55T>A
XM_005257058.3:c.1002+55T>A	XP_005257115.2:n.1002+55T>A
XM_005257059.3:c.957+214T>A	XP_005257116.2:n.957+214T>A
XM_011524341.1:c.957+214T>A	XP_011522643.1:n.957+214T>A
XM_005257058.4:c.1002+55T>A	XP_005257115.2:n.1002+55T>A
XM_005257059.4:c.957+214T>A	XP_005257116.2:n.957+214T>A
NM_000088.4:c.1002+55T>A MANE Select	NP_000079.2:n.1002+55T>A