Canonical Allele Identifier: CA8644253

Gene: COL1A1

Linked Data

• dbSNP Id: rs750954783
• ExAC: 17:48263255 C / T
• gnomAD v2: 17-48263255-C-T
• gnomAD v4: 17-50185894-C-T
• MyVariant Identifiers: chr17:g.48263255C>T (hg19) ; chr17:g.50185894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185894C>T , CM000679.2:g.50185894C>T	GRCh38
NC_000017.10:g.48263255C>T , CM000679.1:g.48263255C>T	GRCh37
NC_000017.9:g.45618254C>T	NCBI36
NG_007400.1:g.20746G>A , LRG_1:g.20746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4132G>A MANE Select	ENSP00000225964.6:p.Asp1378Asn
ENST00000225964.9:c.4132G>A	ENSP00000225964.5:p.Asp1378Asn
ENST00000510710.3:n.1097G>A
NM_000088.3:c.4132G>A , LRG_1t1:c.4132G>A	NP_000079.2:p.Asp1378Asn
XM_005257058.3:c.3862G>A	XP_005257115.2:p.Asp1288Asn
XM_005257059.3:c.3214G>A	XP_005257116.2:p.Asp1072Asn
XM_011524341.1:c.3934G>A	XP_011522643.1:p.Asp1312Asn
XM_005257058.4:c.3862G>A	XP_005257115.2:p.Asp1288Asn
XM_005257059.4:c.3214G>A	XP_005257116.2:p.Asp1072Asn
NM_000088.4:c.4132G>A MANE Select	NP_000079.2:p.Asp1378Asn