Canonical Allele Identifier: CA400205631

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48266790C>T (hg19) ; chr17:g.50189429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189429C>T , CM000679.2:g.50189429C>T	GRCh38
NC_000017.10:g.48266790C>T , CM000679.1:g.48266790C>T	GRCh37
NC_000017.9:g.45621789C>T	NCBI36
NG_007400.1:g.17211G>A , LRG_1:g.17211G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2777G>A MANE Select	ENSP00000225964.6:p.Gly926Asp
ENST00000225964.9:c.2777G>A	ENSP00000225964.5:p.Gly926Asp
NM_000088.3:c.2777G>A , LRG_1t1:c.2777G>A	NP_000079.2:p.Gly926Asp
XM_005257058.3:c.2667+250G>A	XP_005257115.2:n.2667+250G>A
XM_005257059.3:c.1859G>A	XP_005257116.2:p.Gly620Asp
XM_011524341.1:c.2579G>A	XP_011522643.1:p.Gly860Asp
XM_005257058.4:c.2667+250G>A	XP_005257115.2:n.2667+250G>A
XM_005257059.4:c.1859G>A	XP_005257116.2:p.Gly620Asp
NM_000088.4:c.2777G>A MANE Select	NP_000079.2:p.Gly926Asp