Canonical Allele Identifier: CA400200757

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265920C>T (hg19) ; chr17:g.50188559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188559C>T , CM000679.2:g.50188559C>T	GRCh38
NC_000017.10:g.48265920C>T , CM000679.1:g.48265920C>T	GRCh37
NC_000017.9:g.45620919C>T	NCBI36
NG_007400.1:g.18081G>A , LRG_1:g.18081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3178G>A MANE Select	ENSP00000225964.6:p.Ala1060Thr
ENST00000225964.9:c.3178G>A	ENSP00000225964.5:p.Ala1060Thr
ENST00000511732.1:n.122G>A
NM_000088.3:c.3178G>A , LRG_1t1:c.3178G>A	NP_000079.2:p.Ala1060Thr
XM_005257058.3:c.2908G>A	XP_005257115.2:p.Ala970Thr
XM_005257059.3:c.2260G>A	XP_005257116.2:p.Ala754Thr
XM_011524341.1:c.2980G>A	XP_011522643.1:p.Ala994Thr
XM_005257058.4:c.2908G>A	XP_005257115.2:p.Ala970Thr
XM_005257059.4:c.2260G>A	XP_005257116.2:p.Ala754Thr
NM_000088.4:c.3178G>A MANE Select	NP_000079.2:p.Ala1060Thr