Canonical Allele Identifier: CA8645529

Gene: COL1A1

Linked Data

• dbSNP Id: rs771674885
• ExAC: 17:48274015 T / C
• gnomAD v2: 17-48274015-T-C
• MyVariant Identifiers: chr17:g.48274015T>C (hg19) ; chr17:g.50196654T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.821A>G MANE Select	ENSP00000225964.6:p.Asp274Gly
ENST00000225964.9:c.821A>G	ENSP00000225964.5:p.Asp274Gly
ENST00000495677.1:n.548A>G
NM_000088.3:c.821A>G , LRG_1t1:c.821A>G	NP_000079.2:p.Asp274Gly
XM_005257058.3:c.821A>G	XP_005257115.2:p.Asp274Gly
XM_005257059.3:c.821A>G	XP_005257116.2:p.Asp274Gly
XM_011524341.1:c.821A>G	XP_011522643.1:p.Asp274Gly
XM_005257058.4:c.821A>G	XP_005257115.2:p.Asp274Gly
XM_005257059.4:c.821A>G	XP_005257116.2:p.Asp274Gly
NM_000088.4:c.821A>G MANE Select	NP_000079.2:p.Asp274Gly