Canonical Allele Identifier: CA400207931

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48267700A>T (hg19) ; chr17:g.50190339A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190339A>T , CM000679.2:g.50190339A>T	GRCh38
NC_000017.10:g.48267700A>T , CM000679.1:g.48267700A>T	GRCh37
NC_000017.9:g.45622699A>T	NCBI36
NG_007400.1:g.16301T>A , LRG_1:g.16301T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2439T>A MANE Select	ENSP00000225964.6:p.Phe813Leu
ENST00000225964.9:c.2439T>A	ENSP00000225964.5:p.Phe813Leu
ENST00000494334.1:n.366T>A
NM_000088.3:c.2439T>A , LRG_1t1:c.2439T>A	NP_000079.2:p.Phe813Leu
XM_005257058.3:c.2439T>A	XP_005257115.2:p.Phe813Leu
XM_005257059.3:c.1521T>A	XP_005257116.2:p.Phe507Leu
XM_011524341.1:c.2241T>A	XP_011522643.1:p.Phe747Leu
XM_005257058.4:c.2439T>A	XP_005257115.2:p.Phe813Leu
XM_005257059.4:c.1521T>A	XP_005257116.2:p.Phe507Leu
NM_000088.4:c.2439T>A MANE Select	NP_000079.2:p.Phe813Leu