Canonical Allele Identifier: CA400190223

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262918A>T (hg19) ; chr17:g.50185557A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185557A>T , CM000679.2:g.50185557A>T	GRCh38
NC_000017.10:g.48262918A>T , CM000679.1:g.48262918A>T	GRCh37
NC_000017.9:g.45617917A>T	NCBI36
NG_007400.1:g.21083T>A , LRG_1:g.21083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4340T>A MANE Select	ENSP00000225964.6:p.Val1447Asp
ENST00000225964.9:c.4340T>A	ENSP00000225964.5:p.Val1447Asp
NM_000088.3:c.4340T>A , LRG_1t1:c.4340T>A	NP_000079.2:p.Val1447Asp
XM_005257058.3:c.4070T>A	XP_005257115.2:p.Val1357Asp
XM_005257059.3:c.3422T>A	XP_005257116.2:p.Val1141Asp
XM_011524341.1:c.4142T>A	XP_011522643.1:p.Val1381Asp
XM_005257058.4:c.4070T>A	XP_005257115.2:p.Val1357Asp
XM_005257059.4:c.3422T>A	XP_005257116.2:p.Val1141Asp
NM_000088.4:c.4340T>A MANE Select	NP_000079.2:p.Val1447Asp