Canonical Allele Identifier: CA6254944

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103255530T>C , CM000673.2:g.103255530T>C	GRCh38
NC_000011.9:g.103126259T>C , CM000673.1:g.103126259T>C	GRCh37
NC_000011.8:g.102631469T>C	NCBI36
NG_016423.1:g.151100T>C
NG_016423.2:g.151100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.10343T>C MANE Plus Clinical	ENSP00000497174.1:p.Leu3448Pro
ENST00000375735.7:c.10322T>C MANE Select	ENSP00000364887.2:p.Leu3441Pro
ENST00000650373.1:c.10343T>C	ENSP00000497174.1:p.Leu3448Pro
ENST00000334267.11:c.2205+121111T>C	ENSP00000334021.7:n.2205+121111T>C
ENST00000375735.6:c.10322T>C	ENSP00000364887.2:p.Leu3441Pro
ENST00000398093.7:c.10343T>C	ENSP00000381167.3:p.Leu3448Pro
NM_001080463.1:c.10343T>C	NP_001073932.1:p.Leu3448Pro
NM_001377.2:c.10322T>C	NP_001368.2:p.Leu3441Pro
XM_006718903.2:c.10301T>C	XP_006718966.1:p.Leu3434Pro
XM_017018291.1:c.10322T>C	XP_016873780.1:p.Leu3441Pro
XM_017018292.1:c.9704T>C	XP_016873781.1:p.Leu3235Pro
NM_001377.3:c.10322T>C MANE Select	NP_001368.2:p.Leu3441Pro
NM_001080463.2:c.10343T>C MANE Plus Clinical	NP_001073932.1:p.Leu3448Pro