Canonical Allele Identifier: CA8645530

Gene: COL1A1

Linked Data

• dbSNP Id: rs771674885
• ExAC: 17:48274015 T / A
• gnomAD v4: 17-50196654-T-A
• MyVariant Identifiers: chr17:g.48274015T>A (hg19) ; chr17:g.50196654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196654T>A , CM000679.2:g.50196654T>A	GRCh38
NC_000017.10:g.48274015T>A , CM000679.1:g.48274015T>A	GRCh37
NC_000017.9:g.45629014T>A	NCBI36
NG_007400.1:g.9986A>T , LRG_1:g.9986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.821A>T MANE Select	ENSP00000225964.6:p.Asp274Val
ENST00000225964.9:c.821A>T	ENSP00000225964.5:p.Asp274Val
ENST00000495677.1:n.548A>T
NM_000088.3:c.821A>T , LRG_1t1:c.821A>T	NP_000079.2:p.Asp274Val
XM_005257058.3:c.821A>T	XP_005257115.2:p.Asp274Val
XM_005257059.3:c.821A>T	XP_005257116.2:p.Asp274Val
XM_011524341.1:c.821A>T	XP_011522643.1:p.Asp274Val
XM_005257058.4:c.821A>T	XP_005257115.2:p.Asp274Val
XM_005257059.4:c.821A>T	XP_005257116.2:p.Asp274Val
NM_000088.4:c.821A>T MANE Select	NP_000079.2:p.Asp274Val