Canonical Allele Identifier: CA8645084

Gene: COL1A1

Linked Data

• dbSNP Id: rs371324431
• ExAC: 17:48270323 G / T
• gnomAD v2: 17-48270323-G-T
• MyVariant Identifiers: chr17:g.48270323G>T (hg19) ; chr17:g.50192962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192962G>T , CM000679.2:g.50192962G>T	GRCh38
NC_000017.10:g.48270323G>T , CM000679.1:g.48270323G>T	GRCh37
NC_000017.9:g.45625322G>T	NCBI36
NG_007400.1:g.13678C>A , LRG_1:g.13678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+32C>A MANE Select	ENSP00000225964.6:n.1821+32C>A
ENST00000225964.9:c.1821+32C>A	ENSP00000225964.5:n.1821+32C>A
ENST00000476387.1:n.170+32C>A
NM_000088.3:c.1821+32C>A , LRG_1t1:c.1821+32C>A	NP_000079.2:n.1821+32C>A
XM_005257058.3:c.1821+32C>A	XP_005257115.2:n.1821+32C>A
XM_005257059.3:c.958-269C>A	XP_005257116.2:n.958-269C>A
XM_011524341.1:c.1623+32C>A	XP_011522643.1:n.1623+32C>A
XM_005257058.4:c.1821+32C>A	XP_005257115.2:n.1821+32C>A
XM_005257059.4:c.958-269C>A	XP_005257116.2:n.958-269C>A
NM_000088.4:c.1821+32C>A MANE Select	NP_000079.2:n.1821+32C>A