Canonical Allele Identifier: CA400190106

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185545-T-A
• MyVariant Identifiers: chr17:g.48262906T>A (hg19) ; chr17:g.50185545T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185545T>A , CM000679.2:g.50185545T>A	GRCh38
NC_000017.10:g.48262906T>A , CM000679.1:g.48262906T>A	GRCh37
NC_000017.9:g.45617905T>A	NCBI36
NG_007400.1:g.21095A>T , LRG_1:g.21095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4352A>T MANE Select	ENSP00000225964.6:p.Asp1451Val
ENST00000225964.9:c.4352A>T	ENSP00000225964.5:p.Asp1451Val
NM_000088.3:c.4352A>T , LRG_1t1:c.4352A>T	NP_000079.2:p.Asp1451Val
XM_005257058.3:c.4082A>T	XP_005257115.2:p.Asp1361Val
XM_005257059.3:c.3434A>T	XP_005257116.2:p.Asp1145Val
XM_011524341.1:c.4154A>T	XP_011522643.1:p.Asp1385Val
XM_005257058.4:c.4082A>T	XP_005257115.2:p.Asp1361Val
XM_005257059.4:c.3434A>T	XP_005257116.2:p.Asp1145Val
NM_000088.4:c.4352A>T MANE Select	NP_000079.2:p.Asp1451Val