Canonical Allele Identifier: CA2638680246

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198642-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198642T>A , CM000679.2:g.50198642T>A	GRCh38
NC_000017.10:g.48276003T>A , CM000679.1:g.48276003T>A	GRCh37
NC_000017.9:g.45631002T>A	NCBI36
NG_007400.1:g.7998A>T , LRG_1:g.7998A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-138A>T MANE Select	ENSP00000225964.6:n.472-138A>T
ENST00000225964.9:c.472-138A>T	ENSP00000225964.5:n.472-138A>T
ENST00000495677.1:n.61A>T
NM_000088.3:c.472-138A>T , LRG_1t1:c.472-138A>T	NP_000079.2:n.472-138A>T
XM_005257058.3:c.472-138A>T	XP_005257115.2:n.472-138A>T
XM_005257059.3:c.472-138A>T	XP_005257116.2:n.472-138A>T
XM_011524341.1:c.472-138A>T	XP_011522643.1:n.472-138A>T
XM_005257058.4:c.472-138A>T	XP_005257115.2:n.472-138A>T
XM_005257059.4:c.472-138A>T	XP_005257116.2:n.472-138A>T
NM_000088.4:c.472-138A>T MANE Select	NP_000079.2:n.472-138A>T