Canonical Allele Identifier: CA400191345

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263158A>G (hg19) ; chr17:g.50185797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185797A>G , CM000679.2:g.50185797A>G	GRCh38
NC_000017.10:g.48263158A>G , CM000679.1:g.48263158A>G	GRCh37
NC_000017.9:g.45618157A>G	NCBI36
NG_007400.1:g.20843T>C , LRG_1:g.20843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4229T>C MANE Select	ENSP00000225964.6:p.Val1410Ala
ENST00000225964.9:c.4229T>C	ENSP00000225964.5:p.Val1410Ala
NM_000088.3:c.4229T>C , LRG_1t1:c.4229T>C	NP_000079.2:p.Val1410Ala
XM_005257058.3:c.3959T>C	XP_005257115.2:p.Val1320Ala
XM_005257059.3:c.3311T>C	XP_005257116.2:p.Val1104Ala
XM_011524341.1:c.4031T>C	XP_011522643.1:p.Val1344Ala
XM_005257058.4:c.3959T>C	XP_005257115.2:p.Val1320Ala
XM_005257059.4:c.3311T>C	XP_005257116.2:p.Val1104Ala
NM_000088.4:c.4229T>C MANE Select	NP_000079.2:p.Val1410Ala