Canonical Allele Identifier: CA400213824

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270031T>A (hg19) ; chr17:g.50192670T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192670T>A , CM000679.2:g.50192670T>A	GRCh38
NC_000017.10:g.48270031T>A , CM000679.1:g.48270031T>A	GRCh37
NC_000017.9:g.45625030T>A	NCBI36
NG_007400.1:g.13970A>T , LRG_1:g.13970A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1899A>T MANE Select	ENSP00000225964.6:p.Glu633Asp
ENST00000225964.9:c.1899A>T	ENSP00000225964.5:p.Glu633Asp
ENST00000476387.1:n.248A>T
NM_000088.3:c.1899A>T , LRG_1t1:c.1899A>T	NP_000079.2:p.Glu633Asp
XM_005257058.3:c.1899A>T	XP_005257115.2:p.Glu633Asp
XM_005257059.3:c.981A>T	XP_005257116.2:p.Glu327Asp
XM_011524341.1:c.1701A>T	XP_011522643.1:p.Glu567Asp
XM_005257058.4:c.1899A>T	XP_005257115.2:p.Glu633Asp
XM_005257059.4:c.981A>T	XP_005257116.2:p.Glu327Asp
NM_000088.4:c.1899A>T MANE Select	NP_000079.2:p.Glu633Asp