Canonical Allele Identifier: CA400191370

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263160G>T (hg19) ; chr17:g.50185799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185799G>T , CM000679.2:g.50185799G>T	GRCh38
NC_000017.10:g.48263160G>T , CM000679.1:g.48263160G>T	GRCh37
NC_000017.9:g.45618159G>T	NCBI36
NG_007400.1:g.20841C>A , LRG_1:g.20841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4227C>A MANE Select	ENSP00000225964.6:p.Ser1409Arg
ENST00000225964.9:c.4227C>A	ENSP00000225964.5:p.Ser1409Arg
NM_000088.3:c.4227C>A , LRG_1t1:c.4227C>A	NP_000079.2:p.Ser1409Arg
XM_005257058.3:c.3957C>A	XP_005257115.2:p.Ser1319Arg
XM_005257059.3:c.3309C>A	XP_005257116.2:p.Ser1103Arg
XM_011524341.1:c.4029C>A	XP_011522643.1:p.Ser1343Arg
XM_005257058.4:c.3957C>A	XP_005257115.2:p.Ser1319Arg
XM_005257059.4:c.3309C>A	XP_005257116.2:p.Ser1103Arg
NM_000088.4:c.4227C>A MANE Select	NP_000079.2:p.Ser1409Arg