Canonical Allele Identifier: CA400190220

Gene: COL1A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4340T>G MANE Select	ENSP00000225964.6:p.Val1447Gly
ENST00000225964.9:c.4340T>G	ENSP00000225964.5:p.Val1447Gly
NM_000088.3:c.4340T>G , LRG_1t1:c.4340T>G	NP_000079.2:p.Val1447Gly
XM_005257058.3:c.4070T>G	XP_005257115.2:p.Val1357Gly
XM_005257059.3:c.3422T>G	XP_005257116.2:p.Val1141Gly
XM_011524341.1:c.4142T>G	XP_011522643.1:p.Val1381Gly
XM_005257058.4:c.4070T>G	XP_005257115.2:p.Val1357Gly
XM_005257059.4:c.3422T>G	XP_005257116.2:p.Val1141Gly
NM_000088.4:c.4340T>G MANE Select	NP_000079.2:p.Val1447Gly