Canonical Allele Identifier: CA8644171

Gene: COL1A1

Linked Data

• dbSNP Id: rs112873723
• ExAC: 17:48262887 G / C
• gnomAD v2: 17-48262887-G-C
• gnomAD v3: 17-50185526-G-C
• gnomAD v4: 17-50185526-G-C
• MyVariant Identifiers: chr17:g.48262887G>C (hg19) ; chr17:g.50185526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185526G>C , CM000679.2:g.50185526G>C	GRCh38
NC_000017.10:g.48262887G>C , CM000679.1:g.48262887G>C	GRCh37
NC_000017.9:g.45617886G>C	NCBI36
NG_007400.1:g.21114C>G , LRG_1:g.21114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4371C>G MANE Select	ENSP00000225964.6:p.Asp1457Glu
ENST00000225964.9:c.4371C>G	ENSP00000225964.5:p.Asp1457Glu
NM_000088.3:c.4371C>G , LRG_1t1:c.4371C>G	NP_000079.2:p.Asp1457Glu
XM_005257058.3:c.4101C>G	XP_005257115.2:p.Asp1367Glu
XM_005257059.3:c.3453C>G	XP_005257116.2:p.Asp1151Glu
XM_011524341.1:c.4173C>G	XP_011522643.1:p.Asp1391Glu
XM_005257058.4:c.4101C>G	XP_005257115.2:p.Asp1367Glu
XM_005257059.4:c.3453C>G	XP_005257116.2:p.Asp1151Glu
NM_000088.4:c.4371C>G MANE Select	NP_000079.2:p.Asp1457Glu